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Progetti di ricerca

AUSTRIA

OBERÖSTERREICH
LINZ

Finanziato da un ente associato a 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

FINLANDIA

Finland
HELSINKI

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

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

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

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

GERMANIA

Baden-Württemberg
TÜBINGEN

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

GERMANIA

Bayern
WÜRZBURG

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

GERMANIA

Berlin
ADDRESS: NOT PROVIDED - DE

GERMANIA

Berlin
BERLIN

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

GERMANIA

Hessen
LANGEN

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

GERMANIA

Nordrhein-Westfalen
DÜSSELDORF

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCNuove strategie terapeutiche per alleviare le lesioni cutanee nella sindrome AEC
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

ITALIA

EMILIA ROMAGNA
MODENA

Finanziato da un ente associato a IRDiRCAnalisi dei geni PBX1 e EMX2 e loro coinvolgimento nello sviluppo scapolare e pelvico
Università degli Studi di Modena e Reggio Emilia
Dipartimento di Biologia animale

ITALIA

VENETO
ZELARINO

Finanziato da un ente associato a IRDiRCVerso una nuova terapia innovativa della Sindrome di EEC attraverso il silenziamento dell'RNA allele specifico
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

ITALIA

VENETO
ZELARINO

Finanziato da un ente associato a IRDiRCMedicinali di terapia avanzata per la cura dei difetti oculari nella sindrome EEC
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

PAESI BASSI

Noord-Holland
AMSTERDAM

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

PAESI BASSI

Noord-Holland
AMSTERDAM

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

SPAGNA

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

SPAGNA

Andalucía
SEVILLA

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

SPAGNA

Aragón
ZARAGOZA

Finanziato da un ente associato a 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

SPAGNA

Comunidad Valenciana
VALENCIA

Finanziato da un ente associato a IRDiRCComprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCGene editing as a novel therapeutic strategy in Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Fundación para la Investigación Biomédica Hospital Niño Jesús

SPAGNA

Madrid
MADRID

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFa ddr pathway in germline integrity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

SVEZIA

Region Stockholm
HUDDINGE

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

SVEZIA

Region Stockholm
STOCKHOLM

SVEZIA

Region Stockholm
STOCKHOLM

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a 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

GERMANIA

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

GERMANIA

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

GERMANIA

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

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

PAESI BASSI

Gelderland
NIJMEGEN

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

PAESI BASSI

Noord-Holland
AMSTERDAM

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

PAESI BASSI

Noord-Holland
AMSTERDAM

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

PAESI BASSI

Noord-Holland
AMSTERDAM

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

Progetti di ricerca multicentrici