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Human Mutation|July 9, 2004
Bayesian approach to discovering pathogenic SNPs in conserved protein domainsZhaohui Cai, Eric F Tsung, Voichita D Marinescu, et al.Human Mutation|May 18, 2004
The androgen receptor gene mutations database (ARDB): 2004 updateBruce Gottlieb, Lenore K Beitel, Jian Hui Wu, et al.Human Mutation|May 18, 2004
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuriaMarek Orendáè, Ewa Pronicka, Jolanta Kubalska, et al.Human Mutation|May 18, 2004
BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertensionHiroko Morisaki, Norifumi Nakanishi, Shingo Kyotani, et al.Human Mutation|December 26, 2003
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.Human Mutation|December 26, 2003
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and locationJodi K Maranchie, Anoushka Afonso, Paul S Albert, et al.Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.Human Mutation|December 26, 2003
Pyrosequencing-based SNP allele frequency estimation in DNA poolsCatharina Lavebratt, Selim Sengul, Marten Jansson, et al.Human Mutation|December 26, 2003
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiencyFlora Peyvandi, Liliana Tagliabue, Marzia Menegatti, et al.Pageof 577