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62 Resultado(s)

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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

ALEMANHA

Baden-Württemberg
TÜBINGEN

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie

ALEMANHA

Bayern
WÜRZBURG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

ALEMANHA

Berlin
ADDRESS: NOT PROVIDED - DE

ALEMANHA

Berlin
BERLIN

Analysis of structural and non-coding variants in patients with limb malformations
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

ALEMANHA

Hessen
LANGEN

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

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

AUSTRIA

OBERÖSTERREICH
LINZ

Financiado por um membro do IRDiRCEuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde

CANADA

Québec
MONTRÉAL

Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology

ESPANHA

Andalucía
MÁLAGA

Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

ESPANHA

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

ESPANHA

Aragón
ZARAGOZA

Financiado por um membro do IRDiRCRedefining the Cornelia de Lange Spectrum by the integration of new clinical, genomic, transcriptomic and metabolic data
Universidad de Zaragoza. Facultad de Medicina
Laboratorio de Genética Clínica y Genómica Funcional

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCComprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCGene editing as a novel therapeutic strategy in Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Fundación para la Investigación Biomédica Hospital Niño Jesús

ESPANHA

Madrid
MADRID

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFa ddr pathway in germline integrity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

RAPADILINO syndrome: clinical and genetic study
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

ILE-DE-FRANCE
PARIS

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCDesigning therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

ITALIA

EMILIA ROMAGNA
MODENA

Financiado por um membro do IRDiRCAnalysis of the roles of PBX1 and EMX2 in the development of the scapular and pelvic regions of the limbs
Università degli Studi di Modena e Reggio Emilia
Dipartimento di Biologia animale

ITALIA

VENETO
ZELARINO

Financiado por um membro do IRDiRCTowards an innovative therapy of ectrodactyly ectodermal dysplasia clefting syndrome using allele specific RNA silencing
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

ITALIA

VENETO
ZELARINO

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

SUECIA

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

SUECIA

Region Stockholm
STOCKHOLM

SUECIA

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

ALEMANHA

Berlin
BERLIN

Molecular genetics of autosomal-dominant hypertension with brachydactyly type E
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems

ALEMANHA

Berlin
BERLIN

Epigenetic gene and ncRNA regulation in isolated forms of Brachydactyly Type E (BDE)
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems

ALEMANHA

Sachsen
DRESDEN

EXOSC2 zebrafish model and exosom : analysis of EXOSC2 in the development of HK syndrome
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCspEJCificity: Characterization of pre-EJC factors and their role in cell fate determination - FR
ENS - École Normale Supérieure
Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

FRANCA

ILE-DE-FRANCE
PARIS

PAISES BAIXOS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

Projetos de investigação multicêntricos