OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
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
Frontiers | PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis | European Journal of Human Genetics
Primary Progressive Aphasia Associated With GRN Mutations | Neurology
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis | European Journal of Human Genetics
Table of contents | Journal of Medical Genetics
NOTCH2 backstage | PPT
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly - Thauvin‐Robinet - 2001 - Prenatal Diagnosis - Wiley Online Library
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
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
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
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
Frontiers | The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
Christel Thauvin-Robinet: H-index & Awards - Academic Profile | Research.com
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome - ScienceDirect
PDF) 17Q21.31 Microdeletion in a Patient with Pituitary Stalk Interruption Syndrome | Anne-Laure Mosca-Boidron - Academia.edu
Christel Thauvin-Robinet - Translad
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
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy - Authorea
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. - Abstract - Europe PMC
Table of contents | Journal of Epidemiology & Community Health
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature | European Journal of Human Genetics
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
