Cerca un progetto di ricerca

Altra/e opzione/i di ricerca

30 Risultato/i

24 Progetti di ricerca
6 Progetti di ricerca multicentrici

Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

SPAGNA

Madrid
MADRID

Application of genomic techniques (whole genome and 4C-Seq for TDAs) in patients with Overgrowth Syndromes
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz

Fundación para la Investigación Biomédica del H.U. La Paz

Ulteriori dettagli

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

Ulteriori dettagli

GERMANIA

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

Ulteriori dettagli

GERMANIA

Niedersachsen
HANNOVER

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

Klinik für Pädiatrische Hämatologie und Onkologie

Ulteriori dettagli

AUSTRIA

OBERÖSTERREICH
LINZ

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.

Universitätsklinik für Kinder- und Jugendheilkunde

Ulteriori dettagli

CANADA

Colombie-Britannique
VICTORIA

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

Ulteriori dettagli

CANADA

Ontario
OTTAWA, ONTARIO

Detection and simulation of femoroacetabular impingement
University of Ottawa

School of Electrical Engineering and Computer Science (EECS)

Ulteriori dettagli

CANADA

Ontario
TORONTO

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

Ulteriori dettagli

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Ulteriori dettagli

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3

Laboratoire d'Economie de Dijon (LEDi)

Ulteriori dettagli

GERMANIA

Sachsen-Anhalt
MAGDEBURG

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Ulteriori dettagli

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University

Institute of Genetic Medicine

Ulteriori dettagli

SPAGNA

Cataluña
SABADELL

Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí

Laboratorio de Genética de la UDIAT-CD

Ulteriori dettagli

SPAGNA

Madrid
MADRID

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

Ulteriori dettagli

SPAGNA

Madrid
MADRID

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre

Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

Ulteriori dettagli

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Ulteriori dettagli

FRANCIA

ILE-DE-FRANCE
PARIS

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Ulteriori dettagli

ITALIA

LAZIO
ROMA

Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Ulteriori dettagli

SPAGNA

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

Ulteriori dettagli

SPAGNA

Madrid
MADRID

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz

Servicio de Genética Clínica

Ulteriori dettagli

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie

Laboratoire de génétique chromosomique et moléculaire

Ulteriori dettagli

GERMANIA

Thüringen
JENA

ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena

Institut für Humangenetik

Ulteriori dettagli

ITALIA

LAZIO
ROMA

Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Ulteriori dettagli

SVEZIA

Region Stockholm
STOCKHOLM

Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna

Department of Clinical Genetics (Klinisk genetik)

Ulteriori dettagli

Progetti di ricerca multicentrici

FRANCIA

ILE-DE-FRANCE
ORSAY

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells

Institut Curie

Macromolécules et Microsystèmes en Biologie et en Medecine

Ulteriori dettagli

GERMANIA

Sachsen-Anhalt
MAGDEBURG

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Ulteriori dettagli

ITALIA

SICILIA
MESSINA

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

A.O.U. Policlinico "G. Martino"

U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

Ulteriori dettagli

PAESI BASSI

Gelderland
NIJMEGEN

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Radboudumc - Radboud universitair medisch centrum

Afdeling Genetica

Ulteriori dettagli

ITALIA

VENETO
PADOVA

Brains for brain: gruppo di ricerca della task force europea sulle malattie cerebrali e neurodegenerative da accumulo lisosomiale

Azienda Ospedaliera di Padova

Clinica Pediatrica

Ulteriori dettagli

NORVEGIA

Vestlandet
BERGEN

NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases

Haukeland University Hospital

Ulteriori dettagli

Cerca un progetto di ricerca

Altra/e opzione/i di ricerca

30 Risultato/i

Progetti di ricerca

Application of genomic techniques (whole genome and 4C-Seq for TDAs) in patients with Overgrowth Syndromes IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz Fundación para la Investigación Biomédica del H.U. La Paz

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes CIUSSS de l'Estrie - CHUS Fleurimont Service de génétique médicale

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

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

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT Kepler Universitätsklinikum - Med Campus IV. Universitätsklinik für Kinder- und Jugendheilkunde

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

Detection and simulation of femoroacetabular impingement University of Ottawa School of Electrical Engineering and Computer Science (EECS)

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

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders Faculté de Médecine Lyon Est Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study Université de Bourgogne - Bâtiment B3 Laboratoire d'Economie de Dijon (LEDi)

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE) Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research Newcastle University Institute of Genetic Medicine

Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability Corporación Sanitaria Parc Taulí Laboratorio de Genética de la UDIAT-CD

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

A powerful web-based discovery platform for rare disease genetics Institution: Information not provided - US

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity Institut National de la Santé et de la Recherche Médicale

Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases Hospital Universitario Fundación Jiménez Díaz Servicio de Genética Clínica

Detection of chromosomal abnormalities and mutations by high throughput sequencing CHU de Dijon - Plateau technique de Biologie Laboratoire de génétique chromosomique et moléculaire

ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation Institut für Humangenetik am Universitätsklinikum Jena Institut für Humangenetik

Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Chromosomal anomaly Karolinska Universitetssjukhuset - Solna Department of Clinical Genetics (Klinisk genetik)

Progetti di ricerca multicentrici

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells Institut Curie Macromolécules et Microsystèmes en Biologie et en Medecine

International Clearinghouse for Birth Defects Monitoring Systems Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics A.O.U. Policlinico "G. Martino" U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated) Radboudumc - Radboud universitair medisch centrum Afdeling Genetica

Brains for brain: gruppo di ricerca della task force europea sulle malattie cerebrali e neurodegenerative da accumulo lisosomiale Azienda Ospedaliera di Padova Clinica Pediatrica

NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases Haukeland University Hospital

Application of genomic techniques (whole genome and 4C-Seq for TDAs) in patients with Overgrowth Syndromes
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz

Fundación para la Investigación Biomédica del H.U. La Paz

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

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

Klinik für Pädiatrische Hämatologie und Onkologie

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.

Universitätsklinik für Kinder- und Jugendheilkunde

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

Detection and simulation of femoroacetabular impingement
University of Ottawa

School of Electrical Engineering and Computer Science (EECS)

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

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3

Laboratoire d'Economie de Dijon (LEDi)

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University

Institute of Genetic Medicine

Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí

Laboratorio de Genética de la UDIAT-CD

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

A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz

Servicio de Genética Clínica

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie

Laboratoire de génétique chromosomique et moléculaire

ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena

Institut für Humangenetik

Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna

Department of Clinical Genetics (Klinisk genetik)

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells

Institut Curie

Macromolécules et Microsystèmes en Biologie et en Medecine

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

A.O.U. Policlinico "G. Martino"

U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Radboudumc - Radboud universitair medisch centrum

Afdeling Genetica

Brains for brain: gruppo di ricerca della task force europea sulle malattie cerebrali e neurodegenerative da accumulo lisosomiale

Azienda Ospedaliera di Padova

Clinica Pediatrica

NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases

Haukeland University Hospital