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Human mutation

Showing results (1411-1420 of 5,734) with videos related to

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Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Human Mutation|October 30, 2010
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOHCarles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, et al.
Human Mutation|June 1, 2010
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRLLorenzo L Nichols, Ramakrishna P Alur, Elangovan Boobalan, et al.
Human Mutation|June 1, 2010
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancerLinda Mannini, Stefania Menga, Antonio Musio
Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.
Human Mutation|August 5, 2010
Mutations in GDF5 presenting as semidominant brachydactyly A1Ashley M Byrnes, Lemuel Racacho, Sarah M Nikkel, et al.
Human Mutation|July 24, 2010
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiencyHong-Ying Wang, Vivek Gopalan, Ivona Aksentijevich, et al.
Human Mutation|May 28, 2010
Short rare MUC6 minisatellites-5 alleles influence susceptibility to gastric carcinoma by regulating geneJeong-Ah Kwon, Sang-Yeop Lee, Eun-Kyung Ahn, et al.
Human Mutation|May 28, 2010
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palateLuca Scapoli, Marcella Martinelli, Furio Pezzetti, et al.
Pageof 574

Showing results (1411-1420 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Human Mutation|October 30, 2010
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOHCarles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, et al.
Human Mutation|June 1, 2010
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRLLorenzo L Nichols, Ramakrishna P Alur, Elangovan Boobalan, et al.
Human Mutation|June 1, 2010
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancerLinda Mannini, Stefania Menga, Antonio Musio
Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.
Human Mutation|August 5, 2010
Mutations in GDF5 presenting as semidominant brachydactyly A1Ashley M Byrnes, Lemuel Racacho, Sarah M Nikkel, et al.
Human Mutation|July 24, 2010
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiencyHong-Ying Wang, Vivek Gopalan, Ivona Aksentijevich, et al.
Human Mutation|May 28, 2010
Short rare MUC6 minisatellites-5 alleles influence susceptibility to gastric carcinoma by regulating geneJeong-Ah Kwon, Sang-Yeop Lee, Eun-Kyung Ahn, et al.
Human Mutation|May 28, 2010
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palateLuca Scapoli, Marcella Martinelli, Furio Pezzetti, et al.
Pageof 574