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Human mutation

Showing results (361-370 of 6,541) with videos related to

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Human Mutation|January 1, 1997
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1X Z Liu, V E Newton, K P Steel, et al.
Human Mutation|February 6, 1998
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinomaD J Marsh, S D Andrew, D L Learoyd, et al.
Human Mutation|February 6, 1998
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiencyM Shimadzu, H Matsumoto, T Matsuura, et al.
Human Mutation|February 6, 1998
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasiaJ Loughlin, C Irven, Z Mustafa, et al.
Human Mutation|February 6, 1998
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndromeF J Tsai, W L Hwu, S P Lin, et al.
Human Mutation|February 6, 1998
Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophyA Agarwal-Mawal, M Vanasse, L R Simard
Human Mutation|February 6, 1998
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencingC Li, G Weber, P Ekman, et al.
Human Mutation|February 6, 1998
Novel nonsense mutation in exon 15 of the APC gene in one Jewish familyO Monakov, E Shemesh, S Bar-Meir, et al.
Human Mutation|February 6, 1998
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasiaP P Deutz-Terlouw, M Losekoot, C M Aalfs, et al.
Human Mutation|February 6, 1998
335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuriaW L Gitomer, B Y Reed, L A Ruml, et al.
Pageof 655

Showing results (361-370 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1997
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1X Z Liu, V E Newton, K P Steel, et al.
Human Mutation|February 6, 1998
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinomaD J Marsh, S D Andrew, D L Learoyd, et al.
Human Mutation|February 6, 1998
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiencyM Shimadzu, H Matsumoto, T Matsuura, et al.
Human Mutation|February 6, 1998
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasiaJ Loughlin, C Irven, Z Mustafa, et al.
Human Mutation|February 6, 1998
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndromeF J Tsai, W L Hwu, S P Lin, et al.
Human Mutation|February 6, 1998
Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophyA Agarwal-Mawal, M Vanasse, L R Simard
Human Mutation|February 6, 1998
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencingC Li, G Weber, P Ekman, et al.
Human Mutation|February 6, 1998
Novel nonsense mutation in exon 15 of the APC gene in one Jewish familyO Monakov, E Shemesh, S Bar-Meir, et al.
Human Mutation|February 6, 1998
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasiaP P Deutz-Terlouw, M Losekoot, C M Aalfs, et al.
Human Mutation|February 6, 1998
335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuriaW L Gitomer, B Y Reed, L A Ruml, et al.
Pageof 655