Showing results (241-250 of 371) with videos related to
Sort By:
Pageof 38
American Journal of Human Genetics|June 1, 1993
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)P Saugier-Veber, V Abadie, A Moncla, et al.Human Genetics|February 1, 1993
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuriaM Weinstein, R C Eisensmith, V Abadie, et al.The Journal of Pediatrics|June 1, 1997
Occurrence of myeloproliferative disorder in patients with Noonan syndromeB Bader-Meunier, G Tchernia, F Miélot, et al.Human Molecular Genetics|August 13, 1998
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung diseaseB Doray, R Salomon, J Amiel, et al.The Journal of Pediatrics|October 13, 2001
Pierre Robin sequence: a series of 117 consecutive casesM Holder-Espinasse, V Abadie, V Cormier-Daire, et al.Proceedings of the National Academy of Sciences of the United States of America|January 5, 2000
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locusS Bolk, A Pelet, R M Hofstra, et al.American Journal of Medical Genetics. Part A|March 14, 2007
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphismC Crétolle, S Sarnacki, J Amiel, et al.Cell Death and Differentiation|July 7, 2007
Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescenceM Caron, M Auclair, B Donadille, et al.The Journal of Clinical Investigation|April 29, 1998
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's diseaseA Pelet, O Geneste, P Edery, et al.American Journal of Medical Genetics|March 13, 1995
Upper limb malformations in DiGeorge syndromeV Cormier-Daire, L Iserin, D Théophile, et al.Pageof 38