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Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.Clinical Genetics|July 31, 2007
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variabilityA Delahaye, Y Sznajer, S Lyonnet, et al.Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 4, 2004
[Disseminated lupus erythematosus in children: guidelines about investigations during the initial evaluation and follow-up]B Bader-Meunier, E Haddad, P Niaudet, et al.European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.The British Journal of Dermatology|November 21, 2013
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational studyC Chiaverini, A Charlesworth, A Fernandez, et al.Nature Genetics|August 1, 1993
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10S Lyonnet, A Bolino, A Pelet, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|March 24, 2018
Sex- and age-adjusted prevalence estimates of five chronic inflammatory skin diseases in France: results of the « OBJECTIFS PEAU » studyM-A Richard, F Corgibet, M Beylot-Barry, et al.Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.Pageof 38