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Human mutation

Showing results (1441-1450 of 5,734) with videos related to

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Human Mutation|January 22, 2009
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutationsAnnemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, et al.
Human Mutation|January 22, 2009
Protein sequences encode safeguards against aggregationJoke Reumers, Sebastian Maurer-Stroh, Joost Schymkowitz, et al.
Human Mutation|February 12, 2009
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6Olga L Gurvich, Baijayanta Maiti, Robert B Weiss, et al.
Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.
Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Human Mutation|January 30, 2009
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlationsRebecca L Margraf, David K Crockett, Patti M F Krautscheid, et al.
Human Mutation|January 30, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeatsBoi-Dinh Chung, Hülya Kayserili, Minrong Ai, et al.
Human Mutation|January 30, 2009
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndromeMarietta E Kovacs, Janos Papp, Zoltan Szentirmay, et al.
Human Mutation|April 14, 2011
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interactionSusanne Thiele, Luisa de Sanctis, Ralf Werner, et al.
Human Mutation|March 25, 2011
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testingSamuel J Aronson, Eugene H Clark, Lawrence J Babb, et al.
Pageof 574

Showing results (1441-1450 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|January 22, 2009
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutationsAnnemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, et al.
Human Mutation|January 22, 2009
Protein sequences encode safeguards against aggregationJoke Reumers, Sebastian Maurer-Stroh, Joost Schymkowitz, et al.
Human Mutation|February 12, 2009
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6Olga L Gurvich, Baijayanta Maiti, Robert B Weiss, et al.
Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.
Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Human Mutation|January 30, 2009
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlationsRebecca L Margraf, David K Crockett, Patti M F Krautscheid, et al.
Human Mutation|January 30, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeatsBoi-Dinh Chung, Hülya Kayserili, Minrong Ai, et al.
Human Mutation|January 30, 2009
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndromeMarietta E Kovacs, Janos Papp, Zoltan Szentirmay, et al.
Human Mutation|April 14, 2011
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interactionSusanne Thiele, Luisa de Sanctis, Ralf Werner, et al.
Human Mutation|March 25, 2011
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testingSamuel J Aronson, Eugene H Clark, Lawrence J Babb, et al.
Pageof 574