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Progetti di ricerca

Li-Fraumeni syndrome-cancer predisposition syndrome registry Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors Universitätsklinikum Augsburg II. Medizinische Klinik

OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome Medizinische Hochschule Hannover Institut für Humangenetik

Li-Fraumeni syndrome-cancer predisposition syndrome registry Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

i-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification - AT AKH BT 25.3 Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations University of Victoria Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Service d'hématologie pédiatrique

A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID) CCI am Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases CCI am Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz

i-PAD:Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification According to Cellular Pathways -DE CCI am Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz

The NF-kappaB signaling pathways in health und disease: Molecular and cellular effects of NFKB1 and NFKB2 mutations in primary antibody deficiency syndromes CCI am Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases Medizinische Hochschule Hannover Klinik für Pädiatrische Pneumologie, Allergologie und Neonatologie

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases Medizinische Hochschule Hannover Klinik für Rheumatologie und Immunologie

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases Universitätsklinikum Schleswig-Holstein - Campus Kiel Klinik für Innere Medizin I

The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery Barts and The London School of Medicine and Dentistry Centre for Paediatrics

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling Fundación Progreso y Salud Área de bioinformática clínica

In depth evaluation of structural alterations of the immune system in CVID patients by >35 color NGF and WES: impact on diagnostic and prognostic classification Fundación del Instituto de Estudios de Ciencias de la Salud de Castilla y León

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Centro de Regulación Genómica Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Clínic de Barcelona Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari Vall d'Hebron Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital de la Santa Creu i Sant Pau Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu Grupo de investigación en Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Sant Joan de Déu Barcelona Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari de Bellvitge Unidad de Genética Molecular

Characterizing early events driving carcinogenesis in constitutional mismatch repair deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention IDIBELL - Instituto de Investigación Biomédica de Bellvitge Grupo de Cáncer Hereditario

Thyroid alterations in patients with an inherited defect of the miRNA biogenesis machinery IDIBELL - Instituto de Investigación Biomédica de Bellvitge Grupo de Cáncer Hereditario

Characterizing early events driving carcinogenesis in constitutional mismatch repair deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention Hospital Universitario 12 de Octubre Servicio de Inmunodeficiencias, Lactantes y Pediatría General

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases ISCIII - Instituto de Salud Carlos III Centro de Investigación Biomédica en Red de Enfermedades Raras

Somatic mutations in patients with common variable immunodeficiency (CVID) and their implications in diagnosis and treatment Instituto de Investigación Hospital 12 de Octubre Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

Scrutiny of medications for the treatment of patients with repositioning dyskeratosis congenita Universidad de Murcia

Tnf-receptors and programmed cell death in regulation of autoimmunity Institution: Information not provided - US

Genetic basis of immunodeficiency diseases Karolinska Institutet Department of laboratory medicine (LABMED)

Genetic and immunological pathophysiology of primary humoral immunodeficiencies SNSF Head Office SNSF - Swiss National Science Foundation

Genetic and immunological pathophysiology of primary humoral immunodeficiencies Centre Hospitalier Universitaire Vaudois CHUV Service d'immunologie et allergie

Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem) Antwerp University Hospital - UZA Pediatric neurology/Kinderneurologie

GAGA: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases Antwerp University Hospital - UZA Pediatric neurology/Kinderneurologie

RIBOEUROPE: The European Ribosomopathy Consortium - BE Biopark campus The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies - BE Biopark campus The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

Molecular and functional pathogenesis in NF1 and related diseases UZ Leuven - Campus Gasthuisberg Centrum Menselijke Erfelijkheid - UZ Leuven

Indentification and characterization of Merlin interacting proteins University of Alberta Department of Medical Genetics

Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome Hospital for Sick Children, Research Institute

Molecular Determinants of Li-Fraumeni Syndrome Associated Cancers Hospital for Sick Children, Research Institute

Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome The Douglas Research Centre Human Neuroscience

Development of cell and gene therapy for blood disorders, in particularly Gaucher and Blackfan-Diamond diseases Seoul National University Hospital Molecular Diagnostics Laboratory

Clinical research study on neurofibromatosis type 1 in Finland University of Turku Institute of Biomedicine

Pig models for Ataxia telangiectasia and Batten disease Faculty of Medicine and University Hospital Motol Department of Pediatrics

Neurofibromatosis type 1 Disease Model Faculty of Medicine and University Hospital Motol Department of Pediatrics

CliNeF1 : First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1 UPR4301 Centre de biophysique moléculaire (CBM) Equipe signalisation cellulaire et neurofibromatose

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates CHRU de Tours - Hôpital Bretonneau Service de Pneumologie et explorations fonctionnelles respiratoires

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR CHU de Strasbourg - Hôpital de Hautepierre Service de Neuropédiatrie

Pharmacological approaches for the treatment of NF1 bone manifestations Hôpitaux Universitaires Henri Mondor CHU Henri Mondor

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases AP-HP.Centre - Université de Paris - Hôpital Cochin Service de Médecine Génomique des Maladies de Système et d'Organe

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII) CHU Paris - Hôpital Robert Debré UF de Génétique clinique

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies - FR CHU Paris - Hôpital Robert Debré Service d'Hématologie biologique

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1-FR ENS - École Normale Supérieure Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

RIBOEUROPE: The European Ribosomopathy Consortium - FR Faculté de Médecine Paris Diderot Paris 7 - site Bichat Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Laboratoire d'hématologie

Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype? GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Laboratoire d'hématologie

From leukocyte migration dysfunction to phenotypic drug discovery in Ataxia Telangiectasia Hôpital Necker-Enfants Malades Immune Cell Dynamics Lab

Molecular, cellular, and immunological studies of inherited human CARMIL2 deficiency IMAGINE - Institut des Maladies Génétiques Human Genetics of Infectious diseases

Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging. Institut Pasteur Cellules souches et Développement - CNRS UMR3738

Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies. Université Paris Diderot Unité Epigénétique et Destin Cellulaire CNRS UMR7216

Modeling Rubinstein-Taybi Syndrome: Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies Université Paris Diderot Unité Epigénétique et Destin Cellulaire CNRS UMR7216

At the origins of anemia and thrombocytopenia in Fanconi anemia. CLCC Institut Gustave Roussy 4Rs : Replication, Repair, Recombination and ROS

RIBODBA: Blackfan-Diamond anemia: molecular mechanisms of a ribosomal disease Université Paul Sabatier Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099

DEVDBA: Ontogeny as a critical determinant of DBA sensitivity in red blood cells - FR Université Toulouse III Unité de biologie Moléculaire, cellulaire et du développement

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies -DE Zentrum für Kinder- und Jugendmedizin Freiburg Klinik für Pädiatrische Hämatologie und Onkologie

RIBOEUROPE: The European Ribosomopathy Consortium -DE Zentrum für Kinder- und Jugendmedizin Freiburg Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies -DE GeneWerk GmbH

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitäts-Frauenklinik Heidelberg Frauenheilkunde und Geburtshilfe

ADDRess LFS: recording and optimizing psychosocial care for persons with Li-Fraumeni syndrome and their relatives in the context of the intensified screening and follow-up program Universitäts-Frauenklinik Heidelberg Frauenheilkunde und Geburtshilfe

Survey on return to work, quality of life and long-term survival in patients with thyroid cancer (ALSi) - a multicenter prospective study. Klinikum Stuttgart - Katharinenhospital Klinik für Nuklearmedizin

ADDRess: Translational research for patients with abnormal DNA Damage Response Universität Würzburg - Biozentrum Institut für Humangenetik

Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia Universitätsklinikum Frankfurt Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors
Universitätsklinikum Augsburg

II. Medizinische Klinik

OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome
Medizinische Hochschule Hannover

Institut für Humangenetik

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

i-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification - AT
AKH BT 25.3

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria

Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Service d'hématologie pédiatrique

A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg

Centrum für Chronische Immundefizienz

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg

Centrum für Chronische Immundefizienz

i-PAD:Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification According to Cellular Pathways -DE
CCI am Universitätsklinikum Freiburg

Centrum für Chronische Immundefizienz

The NF-kappaB signaling pathways in health und disease: Molecular and cellular effects of NFKB1 and NFKB2 mutations in primary antibody deficiency syndromes
CCI am Universitätsklinikum Freiburg

Centrum für Chronische Immundefizienz

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover

Klinik für Pädiatrische Pneumologie, Allergologie und Neonatologie

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover

Klinik für Rheumatologie und Immunologie

GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel

Klinik für Innere Medizin I

The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry

Centre for Paediatrics

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud

Área de bioinformática clínica

In depth evaluation of structural alterations of the immune system in CVID patients by >35 color NGF and WES: impact on diagnostic and prognostic classification
Fundación del Instituto de Estudios de Ciencias de la Salud de Castilla y León

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica

Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona

Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron

Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau

Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Grupo de investigación en Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona

Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge

Unidad de Genética Molecular

Characterizing early events driving carcinogenesis in constitutional mismatch repair deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention
IDIBELL - Instituto de Investigación Biomédica de Bellvitge

Grupo de Cáncer Hereditario

Thyroid alterations in patients with an inherited defect of the miRNA biogenesis machinery
IDIBELL - Instituto de Investigación Biomédica de Bellvitge

Grupo de Cáncer Hereditario

Characterizing early events driving carcinogenesis in constitutional mismatch repair deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention
Hospital Universitario 12 de Octubre

Servicio de Inmunodeficiencias, Lactantes y Pediatría General

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red de Enfermedades Raras

Somatic mutations in patients with common variable immunodeficiency (CVID) and their implications in diagnosis and treatment
Instituto de Investigación Hospital 12 de Octubre

Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

Scrutiny of medications for the treatment of patients with repositioning dyskeratosis congenita
Universidad de Murcia

Tnf-receptors and programmed cell death in regulation of autoimmunity
Institution: Information not provided - US

Genetic basis of immunodeficiency diseases
Karolinska Institutet

Department of laboratory medicine (LABMED)

Genetic and immunological pathophysiology of primary humoral immunodeficiencies
SNSF Head Office

SNSF - Swiss National Science Foundation

Genetic and immunological pathophysiology of primary humoral immunodeficiencies
Centre Hospitalier Universitaire Vaudois CHUV

Service d'immunologie et allergie

Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Antwerp University Hospital - UZA

Pediatric neurology/Kinderneurologie

GAGA: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
Antwerp University Hospital - UZA

Pediatric neurology/Kinderneurologie

RIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus

The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies - BE
Biopark campus

The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg

Centrum Menselijke Erfelijkheid - UZ Leuven

Indentification and characterization of Merlin interacting proteins
University of Alberta

Department of Medical Genetics

Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

Molecular Determinants of Li-Fraumeni Syndrome Associated Cancers
Hospital for Sick Children, Research Institute

Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
The Douglas Research Centre

Human Neuroscience

Development of cell and gene therapy for blood disorders, in particularly Gaucher and Blackfan-Diamond diseases
Seoul National University Hospital

Molecular Diagnostics Laboratory

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku

Institute of Biomedicine

Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol

Department of Pediatrics

Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol

Department of Pediatrics

CliNeF1 : First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)

Equipe signalisation cellulaire et neurofibromatose

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates
CHRU de Tours - Hôpital Bretonneau

Service de Pneumologie et explorations fonctionnelles respiratoires

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR
CHU de Strasbourg - Hôpital de Hautepierre

Service de Neuropédiatrie

Pharmacological approaches for the treatment of NF1 bone manifestations
Hôpitaux Universitaires Henri Mondor

CHU Henri Mondor

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin

Service de Médecine Génomique des Maladies de Système et d'Organe

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré

UF de Génétique clinique

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies - FR
CHU Paris - Hôpital Robert Debré

Service d'Hématologie biologique

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1-FR
ENS - École Normale Supérieure

Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

RIBOEUROPE: The European Ribosomopathy Consortium - FR
Faculté de Médecine Paris Diderot Paris 7 - site Bichat

Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Laboratoire d'hématologie

Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype?
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Laboratoire d'hématologie

From leukocyte migration dysfunction to phenotypic drug discovery in Ataxia Telangiectasia
Hôpital Necker-Enfants Malades

Immune Cell Dynamics Lab

Molecular, cellular, and immunological studies of inherited human CARMIL2 deficiency
IMAGINE - Institut des Maladies Génétiques

Human Genetics of Infectious diseases

Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging.
Institut Pasteur

Cellules souches et Développement - CNRS UMR3738

Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot

Unité Epigénétique et Destin Cellulaire CNRS UMR7216

Modeling Rubinstein-Taybi Syndrome: Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies
Université Paris Diderot

Unité Epigénétique et Destin Cellulaire CNRS UMR7216

At the origins of anemia and thrombocytopenia in Fanconi anemia.
CLCC Institut Gustave Roussy

4Rs : Replication, Repair, Recombination and ROS

RIBODBA: Blackfan-Diamond anemia: molecular mechanisms of a ribosomal disease
Université Paul Sabatier

Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099

DEVDBA: Ontogeny as a critical determinant of DBA sensitivity in red blood cells - FR
Université Toulouse III

Unité de biologie Moléculaire, cellulaire et du développement

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies -DE
Zentrum für Kinder- und Jugendmedizin Freiburg

Klinik für Pädiatrische Hämatologie und Onkologie

RIBOEUROPE: The European Ribosomopathy Consortium -DE
Zentrum für Kinder- und Jugendmedizin Freiburg

Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies -DE
GeneWerk GmbH

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg

Frauenheilkunde und Geburtshilfe

ADDRess LFS: recording and optimizing psychosocial care for persons with Li-Fraumeni syndrome and their relatives in the context of the intensified screening and follow-up program
Universitäts-Frauenklinik Heidelberg

Frauenheilkunde und Geburtshilfe

Survey on return to work, quality of life and long-term survival in patients with thyroid cancer (ALSi) - a multicenter prospective study.
Klinikum Stuttgart - Katharinenhospital

Klinik für Nuklearmedizin

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum

Institut für Humangenetik

Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Universitätsklinikum Frankfurt

Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia
Universitätsklinikum Frankfurt

Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut

Abteilung Medizinische Biotechnologie

BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1: An international, multicenter, epidemiological protocol
CENTOGENE GmbH

ADDRess: Translational research for patients with abnormal DNA Damage Response
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie