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Research projects

AUSTRIA

OBERÖSTERREICH
LINZ

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

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberFrom skeletal dysplasias to GAG synthesis: role of SLC10A7
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberInvolvement of the ribosomal protein RPL13 in bone growth
Faculté de médecine de Nantes
Physiopathologie et pharmacologie cellulaire et moléculaire

UNITED KINGDOM

Essex
LONDON

Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

AUSTRIA

WIEN
WIEN

Endothelial senescence in progeria
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie

BELGIUM

HAINAUT
GOSSELIES

Funded by an IRDiRC memberRIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

BELGIUM

OOST-VLAANDEREN
GENT

Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent

BELGIUM

OOST-VLAANDEREN
GENT

Designing an integrated platform for the development of more precise medicine in Heritable Thoracic Aortic Disease
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent

BELGIUM

OOST-VLAANDEREN
GENT

Funded by an IRDiRC memberImmunAID: Immunome Project Consortium for Autoinflammatory Disorders - BE
VIB headquarters
VIB (vlaams instituut voor biotechnologie) headquarters

BELGIUM

VLAAMS BRABANT
LEUVEN

Funded by an IRDiRC memberImmunAID: Immunome Project Consortium for Autoinflammatory Disorders - BE
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

BELGIUM

VLAAMS BRABANT
LEUVEN

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

CANADA

Colombie-Britannique
VANCOUVER

Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Colombie-Britannique
VANCOUVER

Funded by an IRDiRC memberCellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
KINGSTON

Funded by an IRDiRC memberIIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium -CA
Queen's University
Department of Biomedical and Molecular Sciences

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

FINLAND

Finland
HELSINKI

FINLAND

Finland
HELSINKI

FINLAND

Finland
TURKU

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

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberRole of minor splicing in brain development
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse
Service de neurogénétique

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

AUVERGNE-RHONE-ALPES
VILLEURBANNE

Funded by an IRDiRC memberA transcriptomic study in zebrafish models of RNU4ATAC-associated rare diseases: connecting U12 splicing defects to developmental abnormalities
Université Claude Bernard Lyon 1
Centre de Recherche en Neurosciences de Lyon (CNRL), INSERM U1028, CNRS UMR 5292

FRANCE

GRAND-EST
VANDOEUVRE LES NANCY CEDEX

Funded by an IRDiRC memberPHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure - FR
Institut des sciences de l'ingénierie et des systèmes
UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)

FRANCE

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCE

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRIBOEUROPE: 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)

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberdissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"

FRANCE

ILE-DE-FRANCE
PARIS

Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

ILE-DE-FRANCE
PARIS

Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberStudy of SYK signaling in chronic inflammatory diseases
Centre Méditerranéen de Médecine Moléculaire

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberRIBOEUROPE: The European Ribosomopathy Consortium -DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberTREAT-HGPS: Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberPROGERIA : The rarest of the rare - exploring non-coding RNA in the disease pathogenesis of Hutchinson-Gilford progeria syndrome -DE
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

GERMANY

Hamburg
HAMBURG

Identification of new monogenic disease genes by means of Next Generation Sequencing
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

A long-read genome sequencing approach to identify novel genes associated with accelerated aging phenotypes
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

GERMANY

Saarland
HOMBURG

Funded by an IRDiRC memberPHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure -DE
Universitätsklinikum des Saarlandes
Institut für Experimentelle Orthopädie und Arthroseforschung

GERMANY

Sachsen-Anhalt
MAGDEBURG

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

ITALY

ABRUZZO
L'AQUILA

Transfer strategy microparticles for the treatment of osteoporosis-induced deficits in RANKL (Receptor Activator of NF-kB Ligand)
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALY

EMILIA ROMAGNA
BOLOGNA

Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberA novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare

ITALY

LOMBARDIA
MILANO

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDevelopment of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University

NETHERLANDS

Gelderland
NIJMEGEN

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

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberNormalization of the vasculature to prevent heterotopic ossification in Fibrodysplasia ossificans progressiva - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Cel en Chemische Biologie

NORWAY

Østlandet
NESODDTANGEN

The Norwegian Adult Achondroplasia Study
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWAY

Østlandet
NESODDTANGEN

Fysisk form og aktivitetsvaner hos voksne med akondroplasi
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWAY

Østlandet
NESODDTANGEN

Norsk studie om Marfans syndrom, del 2: Ny undersøkelse etter 10 år av voksne med antatt Marfans syndrom
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWAY

Østlandet
NESODDTANGEN

NORWAY

Østlandet
OSLO

Marfans syndrom og søvnapné
Lovisenberg Diakonale Sykehus AS
Kirurgisk klinikk

NORWAY

Østlandet
OSLO

Marfans syndrom og søvnapné
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser

NORWAY

Østlandet
OSLO

Knee stability in children with achondroplasia after gradual distalisation of the fibula head
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for medfødte deformiteter i underekstrimiter hos barn

NORWAY

Østlandet
OSLO

Oversettelse og pilotutprøving av online intervensjonsprogram for ungdom
Oslo Universitetssykehus HF, Rikshospitalet
SSD - Senter for sjeldne diagnoser

SPAIN

Cataluña
BADALONA

Funded by an IRDiRC memberImpact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

SPAIN

Cataluña
BARCELONA

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberComprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

SPAIN

Madrid
MADRID

Lipodystrophy and sarcopenia in Hutchinson-Gilford progeria syndrome: mechanisms and role in disease progression
CNIC: Centro Nacional de Investigaciones Cardiovasculares
Fisiopatología cardiovascular molecular y genética

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification 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
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberNew concept for the treatment of osteogenesis imperfecta: a pharmacological approach
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en células madre y terapia celular

SWEDEN

Region Stockholm
HUDDINGE

Genetic mechanisms in progeria
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition

SWEDEN

Region Västra Götaland
GÖTEBORG

Targeting the CAAX protein processing enzymes in the treatment of progeria
Göteborg University
Department of Molecular and Clinical Medicine

SWITZERLAND

Suisse Romande
GENÈVE

Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genève
Département de Génétique et Evolution

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UNITED STATES

South Dakota
SIOUX FALLS

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting tumors with nf1 loss
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBmp inhibitors to treat fibrodysplasia ossificans progressiva
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical and molecular studies of malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular studies of malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberIn vivo gene targeting to treat inherited bone disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInnate immune regulation of stem cells in bone formation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCollagen-related diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberComponents and kinetics in exocytosis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDevelopmental studies in the skeletal dysplasias
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic bone disorders-autosomal recessive oi
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular studies in the skeletal dysplasias
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHeritable disorders of connective tissue
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberThe role of Glypican-6 in Recessive Omodysplasia
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberTargeting the vitamin D receptor for the treatment of rare diseases induced by calcitriosis
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Génomique fonctionnelle et cancer

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberLADOMICS: Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies -DE
Klinikum rechts der Isar der Technischen Universität München
Klinik und Poliklinik für Innere Medizin III: Hämatologie und Internistische Onkologie

GERMANY

Berlin
BERLIN

CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport

ITALY

ABRUZZO
L'AQUILA

Funded by an IRDiRC memberNew therapeutic approaches to osteopetrosis
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALY

ABRUZZO
L'AQUILA

Funded by an IRDiRC memberAutosomal Dominant Osteopetrosis Type 2 (ADO2): close to the cure. What do we miss?
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALY

LIGURIA
GENOVA

SWEDEN

Region Stockholm
HUDDINGE

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

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberWhat dose of vitamin D is required to achieve target serum 25-hydroxyvitamin D levels in children?
Kings College School of Medicine
Guy's and St Thomas NHS Foundation Trust

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic epidemiology of complex diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRegulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

FRANCE

ILE-DE-FRANCE
MONTROUGE

Funded by an IRDiRC memberX-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

SPAIN

Asturias
OVIEDO

Funded by an IRDiRC memberApplication of RenalTube to patients needs and clinical and experimental research on distal renal tubular acidosis and hypophosphatemic rickets linked to the X chromosome
Fundación para la Investigación Biosanitaria del Principado de Asturias
FINBA: Fundación para la Investigación Biosanitaria del Principado de Asturias

SPAIN

Asturias
OVIEDO

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US

SPAIN

Canarias
LAS PALMAS DE GRAN CANARIA

Funded by an IRDiRC memberInvestigation of therapeutic strategies for Dent-1 disease and adaptation of RenalTube to the needs of patients with primary tubulopathies
Hospital Universitario de Gran Canaria Dr. Negrín
FIISC: Fundación Canaria Instituto de Investigación Sanitaria de Canarias

Multicentric Research projects