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American Journal of Medical Genetics. Part A|February 14, 2006
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyVanita Vanita, Daljit Singh, Peter N Robinson, et al.American Journal of Medical Genetics. Part A|February 14, 2006
A nonsense mutation of PEPD in four Amish children with prolidase deficiencyHeng Wang, Biji T Kurien, David Lundgren, et al.American Journal of Medical Genetics. Part A|February 14, 2006
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestationsPinar Bayrak-Toydemir, Jamie McDonald, Boaz Markewitz, et al.American Journal of Medical Genetics. Part A|February 14, 2006
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 familyElisabetta Tabolacci, M Grazia Pomponi, Roberta Pietrobono, et al.American Journal of Medical Genetics. Part A|January 19, 2006
Obstructive sleep apnea in Costello syndromeGiacomo Della Marca, Isabella Vasta, Emanuele Scarano, et al.American Journal of Medical Genetics. Part A|January 19, 2006
18q deletions: clinical, molecular, and brain MRI findings of 14 individualsTarja Linnankivi, Pentti Tienari, Mirja Somer, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndromeGiuseppe Limongelli, Anna Sarkozy, Giuseppe Pacileo, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaDavid O Robinson, Rachel J Howarth, Kathleen A Williamson, et al.American Journal of Medical Genetics. Part A|October 21, 2016
Subclinical dysphagia in persons with Prader-Willi syndromeRoxann Diez Gross, Ronit Gisser, Gregory Cherpes, et al.American Journal of Medical Genetics. Part A|August 25, 2004
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and reviewStephanie E Wallace, Ralph S Lachman, Pertchoui B Mekikian, et al.Pageof 929