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Human Mutation|August 10, 2004
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1Yao-Hua Zhang, Bing-Ling Huang, Kathy K Niakan, et al.
Human Mutation|May 18, 2004
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequencesEugene H Chang, Maithilee Menezes, Nicole C Meyer, et al.
Human Mutation|May 18, 2004
Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)Xue-Jun Zhang, Ping-Ping He, Ming Li, et al.
Human Mutation|May 18, 2004
Familial melanoma, pancreatic cancer and germline CDKN2A mutationsAlisa M Goldstein
Human Mutation|May 18, 2004
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathyAldobrando Broccolini, Enzo Ricci, Denise Cassandrini, et al.
Human Mutation|March 17, 2004
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in FranceGaëtan Lesca, Henri Plauchu, Florence Coulet, et al.
Human Mutation|March 17, 2004
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech RepublicLenka Foretova, Eva Machackova, Marie Navratilova, et al.
Human Mutation|March 17, 2004
Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)Marija Velickovic, Madhuri L Prasad, Susan A Weston, et al.
Human Mutation|March 17, 2004
CYLD mutation causes multiple familial trichoepithelioma in three Chinese familiesGuangyong Zheng, Landian Hu, Wei Huang, et al.
Human Mutation|March 19, 2005
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 geneMaria Pia Sperandeo, Patrizia Annunziata, Virginia Ammendola, et al.
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