Update on oral-facial-digital syndromes (OFDS)
Cerebral dysgenesis does not exclude OFD I syndrome<link href='#fn1'></link>
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases - ScienceDirect
Article Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes
R&D News Archives - Page 2 of 5 - Research & Innovation
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD)
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. - Abstract - Europe PMC
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD)
Christel Thauvin-Robinet - Translad
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing | European Journal of Human Genetics
Conférenciers invités – Assises de Génétique Humaine et Médicale 2022
8èmes ASSISES DE GENETIQUE HUMAINE ET MEDICALE Lyon, 3-5 février 2015 - ppt télécharger
TCTN3 Mutations Cause Mohr-Majewski Syndrome - ppt download
Functional characterization of a novel c.614 622del rhodopsin mutation in a French pedigree with retinitis pigmentosa
Diagnostic étiologique génétique de la déficience intellectuelle de causes rares et des anomalies du développement Intérê
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy | Scientific Reports
Expanding the clinical phenotype of patients with a ZDHHC9 mutation
SHORT REPORT The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Gallery - NeuroGeMM Group
Oral-Facial-Digital syndrome Type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of t
