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

Progetti di ricerca

GERMANIA

Schleswig-Holstein
LÜBECK

DSDCare: Standardized healthcare-center-centered care of DSD over the life span
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Hormonzentrum für Kinder und Jugendliche - Lübeck

SVIZZERA

Suisse Romande
LAUSANNE

Improving Cleft Lip/Palate management of care through genomic medicine
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

SVIZZERA

Suisse Romande
LAUSANNE

The Neuroendocrine Control of Human Reproduction II
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVIZZERA

Suisse Alémanique
BERN

CANADA

Alberta
EDMONTON

Finanziato da un ente associato a IRDiRCAutonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Alberta
EDMONTON

Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Finanziato da un ente associato a IRDiRCFood practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR

FRANCIA

GRAND-EST
STRASBOURG

Finanziato da un ente associato a IRDiRCBardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112

FRANCIA

NOUVELLE AQUITAINE
PESSAC

Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCProof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCNecdin gene therapy to restore normal breathing in a mouse model of Prader-Willi syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

GERMANIA

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

GERMANIA

Niedersachsen
GÖTTINGEN

ITALIA

FRIULI VENEZIA GIULIA
TRIESTE

miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato

ITALIA

LAZIO
FIUMICINO

La sindrome di Prader-Willi: aspetti genetici, neuroanatomo funzionali ed endocrino metabolici
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
CUSANO MILANINO

REGNO UNITO; GRAN BRETAGNA

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

SPAGNA

Galicia
VIGO

Finanziato da un ente associato a IRDiRCMolecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCCilium-associated structures in rod cells
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFunction of c8orf37 in photoreceptors
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 IRDiRCEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe regulation of pubertal onset and reproductive development
Institution: Information not provided - US

SVEZIA

Region Stockholm
STOCKHOLM

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

SVEZIA

Region Örebro län
ÖREBRO

Study on cognitive hearing sciences (Linnéus HEAD) in Ushers, Alström syndrome, CHARGE and other syndromic deafness disorders
Örebro University Hospital
Department of Audiology/ Audiological Clinical Research Centre

REGNO UNITO; GRAN BRETAGNA

Hampshire
SOUTHAMPTON

Progetti di ricerca multicentrici