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Human Mutation|June 19, 2008
Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair formChunyan Mou, Helen A Thomason, Pamela M Willan, et al.Human Mutation|June 20, 2008
SLC45A2: a novel malignant melanoma-associated geneL P Fernandez, R L Milne, G Pita, et al.Human Mutation|July 18, 2008
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer riskM Mitui, S A Nahas, L T Du, et al.Human Mutation|June 24, 2008
Somatic mosaicism for copy number variation in differentiated human tissuesArkadiusz Piotrowski, Carl E G Bruder, Robin Andersson, et al.Human Mutation|August 28, 2007
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndromeAudrey McAlinden, Marja Majava, Paul N Bishop, et al.Human Mutation|July 12, 2007
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delayWiktor Borozdin, John M Graham, Detlef Böhm, et al.Human Mutation|September 20, 2007
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneManuel C Lemos, Rajesh V ThakkerHuman Mutation|September 15, 2007
Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) geneDiana Rubin, Alexandra Schneider-Muntau, Maja Klapper, et al.Human Mutation|April 17, 2007
Progranulin null mutations in both sporadic and familial frontotemporal dementiaIsabelle Le Ber, Julie van der Zee, Didier Hannequin, et al.Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.Pageof 574