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American Journal of Medical Genetics. Part A|March 25, 2004
Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retinaCarsten H Meyer, Pia Freyschmidt-Paul, Rudolf Happle, et al.American Journal of Medical Genetics. Part A|January 8, 2005
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutationQiuju Wang, Roughua Li, Hui Zhao, et al.American Journal of Medical Genetics. Part A|January 8, 2005
Behavior in CHARGE syndrome: introduction to the special topicTimothy S Hartshorne, Margaret A Hefner, Sandra L H DavenportAmerican Journal of Medical Genetics. Part A|January 8, 2005
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndromeEline A Nannenberg, Rob Bijlmer, Bjorn M Van Geel, et al.American Journal of Medical Genetics. Part A|January 8, 2005
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore, Jane S Green, Yanli Fan, et al.American Journal of Medical Genetics. Part A|January 8, 2005
CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 yearsLisa C Searle, John M Graham, Chitra Prasad, et al.American Journal of Medical Genetics. Part A|January 25, 2005
GJB2 mutations: passage through IranHossein Najmabadi, Carla Nishimura, Kimia Kahrizi, et al.American Journal of Medical Genetics. Part A|January 25, 2005
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3David J Amor, Lucille Voullaire, Karen Bentley, et al.American Journal of Medical Genetics. Part A|January 6, 2005
Alpha-thalassemia/mental retardation syndrome in a 45,X maleRichard Kellermayer, Márta Czakó, Zsuzsanna Kiss-László, et al.American Journal of Medical Genetics. Part A|January 6, 2005
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathyRichard A Steet, Roger Hullin, Mariko Kudo, et al.Pageof 929