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Human mutation

Showing results (1071-1080 of 5,733) with videos related to

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Human Mutation|November 20, 2010
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collectionGeorge P Patrinos, Jumana Al Aama, Aida Al Aqeel, et al.
Human Mutation|November 20, 2010
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibrominStefan Welti, Sonja Kühn, Igor D'Angelo, et al.
Human Mutation|December 2, 2010
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndromeTracy Busse, John M Graham, Gerald Feldman, et al.
Human Mutation|December 2, 2010
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsJohannes Häberle, Oleg A Shchelochkov, Jing Wang, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Human Mutation|April 6, 2013
A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndromeHelena Riuró, Pedro Beltran-Alvarez, Anna Tarradas, et al.
Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
Human Mutation|January 22, 2013
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court, Alex Martin-Trujillo, Valeria Romanelli, et al.
Human Mutation|February 5, 2013
Heterozygous genetic variations of FOXP3 in Xp11.23 elevate breast cancer risk in Chinese population via skewed X-chromosome inactivationJian Zheng, Jieqiong Deng, Lan Jiang, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Pageof 574

Showing results (1071-1080 of 5,733) with videos related to

Sort By:
Pageof 574
Human Mutation|November 20, 2010
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collectionGeorge P Patrinos, Jumana Al Aama, Aida Al Aqeel, et al.
Human Mutation|November 20, 2010
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibrominStefan Welti, Sonja Kühn, Igor D'Angelo, et al.
Human Mutation|December 2, 2010
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndromeTracy Busse, John M Graham, Gerald Feldman, et al.
Human Mutation|December 2, 2010
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsJohannes Häberle, Oleg A Shchelochkov, Jing Wang, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Human Mutation|April 6, 2013
A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndromeHelena Riuró, Pedro Beltran-Alvarez, Anna Tarradas, et al.
Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
Human Mutation|January 22, 2013
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court, Alex Martin-Trujillo, Valeria Romanelli, et al.
Human Mutation|February 5, 2013
Heterozygous genetic variations of FOXP3 in Xp11.23 elevate breast cancer risk in Chinese population via skewed X-chromosome inactivationJian Zheng, Jieqiong Deng, Lan Jiang, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Pageof 574