In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome - ScienceDirect
Frontiers | PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
Christel Thauvin-Robinet: H-index & Awards - Academic Profile | Research.com
Déficiences intellectuelles de causes rares du CHU de Dijon - PEMR - Plateforme d'expertise Maladies Rares Bourgogne Franche-Comté PEMR – Plateforme d'expertise Maladies Rares Bourgogne Franche-Comté
Table of contents | Journal of Medical Genetics
Christel Thauvin-Robinet - Translad
☎️ Contacts du Dr Christel Thauvin Robinet, Geneticien à Dijon 21000
PDF) 17Q21.31 Microdeletion in a Patient with Pituitary Stalk Interruption Syndrome | Anne-Laure Mosca-Boidron - Academia.edu
NOTCH2 backstage | PPT
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.,European Journal of Human Genetics - X-MOL
Primary Progressive Aphasia Associated With GRN Mutations | Neurology
PDF) Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders | Anne-Laure Mosca-Boidron - Academia.edu
Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM) – topic of research paper in Biological sciences. Download scholarly article PDF and read for free
Table of contents | Journal of Epidemiology & Community Health
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
Christel Thauvin-Robinet: H-index & Awards - Academic Profile | Research.com
Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease? - Andreou - 2022 - Clinical Genetics - Wiley Online Library
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, - ppt video online download
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy - Authorea
Pr Christel THAUVIN-ROBINET - Auteur | Edimark
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, - ppt video online download
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis | European Journal of Human Genetics
