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Projets de recherche
FRANCE
ILE-DE-FRANCE
PARIS
Dynamique structurale des complexes NMD : détecteur et effecteur
Institut Pasteur
PAYS-BAS
Zuid-Holland
ROTTERDAM
Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
ROYAUME-UNI
Essex
LONDON
Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics
CANADA
Québec
SHERBROOKE
Application clinique du séquençage de l'exome pour le diagnostic moléculaire des syndromes polymalformatifs
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US
ITALIE
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. di Neurochirurgia Infantile
ITALIE
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare
NORVEGE
Østlandet
OSLO
Genetics of craniosynostosis
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
ALLEMAGNE
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
ESPAGNE
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
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Caractérisation de la perturbation de l'architecture 3D de la chromatine dans les réarrangements chromosomiques pour identifier les gènes candidats dans les troubles neurodéveloppementaux
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
FRANCE
BOURGOGNE-FRANCHE-COMTE
DIJON
Configurations d’Aides et Situations d’Emploi pour les PRoches Aidants. Le cas des enfants atteints de maladies rares avec déficience intellectuelle. Une étude pilote
Université de Bourgogne - Bâtiment B3
Laboratoire d'Economie de Dijon (LEDi)
ROYAUME-UNI
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
AUTRICHE
OBERÖSTERREICH
LINZ
EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde
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
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAGNE
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
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
ESPAGNE
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
ESPAGNE
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
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
La surexpression du gène de la neuroglobine : un outil prometteur pour traiter un large spectre de troubles neurologiques grâce à sa capacité à préserver de manière sûre et durable l'intégrité mitochondriale
Institut National de la Santé et de la Recherche Médicale
ITALIE
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
Projets de recherche multicentriques
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Faculty of Medical and Human Sciences - University of Manchester
- Department of Dental Medicine and Surgery
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
ITALIE
LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome
ALLEMAGNE
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALIE
SICILIA
MESSINA
CHERISH: amélioration du diagnostic de retard mental chez les enfants en Europe centrale et orientale et en Asie centrale grâce à la caractérisation génétique et la bioinformatique/biostatistique
PAYS-BAS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
ROYAUME-UNI
Greater Manchester
MANCHESTER
EUROCRAN: European collaboration on craniofacial anomalies - Eurocleft clinical network (TERMINATED)
ITALIE
VENETO
PADOVA