Présentation
Publications scientifiques
-
2025Journal (source)Mol AutismDeciphering the genetic basis of developmental language disorder in children ...
-
2022Journal (source)J Med Genet.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
-
2019Journal (source)Eur. J. Hum. Genet.
Whole-exome sequence analysis highlights the role of unmasked recessive mutat...
-
2018Journal (source)JAMA
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage...
-
2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano...
-
2017Journal (source)Am. J. Med. Genet. A
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate...
-
2012Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.