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European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
The Journal of Experimental Medicine|January 26, 2022
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisibGabriel Morin, Caroline Degrugillier-Chopinet, Marie Vincent, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon, Florence Petit, Peter M Kroisel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Orphanet Journal of Rare Diseases|August 5, 2021
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in FranceClaude Messiaen, Caroline Racine, Ahlem Khatim, et al.
Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
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