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Human mutation

Showing results (1111-1120 of 5,734) with videos related to

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Human Mutation|April 10, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri, Edith C H Friesema, Simone Kersseboom, et al.
Human Mutation|May 25, 2013
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expressionMathilde Keck, Olga Andrini, Olivier Lahuna, et al.
Human Mutation|June 13, 2013
Functional interaction between SNPs and microsatellite in the transcriptional regulation of insulin-like growth factor 1Holly Y Chen, Wei Huang, Vincent H K Leung, et al.
Human Mutation|June 13, 2013
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic dataLora J H Bean, Stuart W Tinker, Cristina da Silva, et al.
Human Mutation|March 21, 2012
Back to the future: from genome to metabolomeJoseph V Thakuria, Alexander W Zaranek, George M Church, et al.
Human Mutation|September 23, 2014
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical dataMarc Ferré, Angélique Caignard, Dan Milea, et al.
Human Mutation|August 16, 2014
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyPatrick Forny, D Sean Froese, Terttu Suormala, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Human Mutation|August 20, 2014
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseAmelia Morrone, Anna Caciotti, Robert Atwood, et al.
Pageof 574

Showing results (1111-1120 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 10, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri, Edith C H Friesema, Simone Kersseboom, et al.
Human Mutation|May 25, 2013
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expressionMathilde Keck, Olga Andrini, Olivier Lahuna, et al.
Human Mutation|June 13, 2013
Functional interaction between SNPs and microsatellite in the transcriptional regulation of insulin-like growth factor 1Holly Y Chen, Wei Huang, Vincent H K Leung, et al.
Human Mutation|June 13, 2013
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic dataLora J H Bean, Stuart W Tinker, Cristina da Silva, et al.
Human Mutation|March 21, 2012
Back to the future: from genome to metabolomeJoseph V Thakuria, Alexander W Zaranek, George M Church, et al.
Human Mutation|September 23, 2014
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical dataMarc Ferré, Angélique Caignard, Dan Milea, et al.
Human Mutation|August 16, 2014
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyPatrick Forny, D Sean Froese, Terttu Suormala, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Human Mutation|August 20, 2014
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseAmelia Morrone, Anna Caciotti, Robert Atwood, et al.
Pageof 574