Christel Thauvin-Robinet: H-index & Awards - Academic Profile | Research.com
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease? - Andreou - 2022 - Clinical Genetics - Wiley Online Library
Team - Translad
International study led by University College Dublin uncovers mechanism behind Joubert syndrome - Research & Innovation
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
NOTCH2 backstage | PPT
Pr Christel THAUVIN-ROBINET - Auteur | Edimark
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
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
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
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome - ScienceDirect
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? - Tessier - 2020 - Clinical Genetics - Wiley Online Library
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia | Neurology Genetics
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
PDF) 17Q21.31 Microdeletion in a Patient with Pituitary Stalk Interruption Syndrome | Anne-Laure Mosca-Boidron - Academia.edu
Christel Thauvin-Robinet - Translad
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
Table of contents | Journal of Medical Genetics
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodev
Christel Thauvin-Robinet: H-index & Awards - Academic Profile | Research.com
