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Human mutation

Showing results (611-620 of 6,543) with videos related to

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Human Mutation|January 11, 2000
SALL1 mutations in Townes-Brocks syndrome and related disordersJ Kohlhase
Human Mutation|January 11, 2000
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancerE Grzybowska, H Zientek, A Jasinska, et al.
Human Mutation|January 11, 2000
Genetic variation in ICF syndrome: evidence for genetic heterogeneityC Wijmenga, R S Hansen, G Gimelli, et al.
Human Mutation|January 11, 2000
BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutationsL Tao, M Boyd, G Gonye, et al.
Human Mutation|January 11, 2000
TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopiaY F Leung, P O Tam, L Baum, et al.
Human Mutation|January 4, 2001
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patientsC Duponchel, C Di Rocco, M Cicardi, et al.
Human Mutation|January 4, 2001
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndromeR Matsukawa, K Iida, M Nakayama, et al.
Human Mutation|January 4, 2001
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15M Bodzioch, K Lapicka, C Aslanidis, et al.
Human Mutation|January 4, 2001
BRCA2 germline mutations in male breast cancer patients in the Polish populationE Kwiatkowska, M Teresiak, K M Lamperska, et al.
Human Mutation|January 4, 2001
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemiaJ R Toone, D A Applegarth, M B Coulter-Mackie, et al.
Pageof 655

Showing results (611-620 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 11, 2000
SALL1 mutations in Townes-Brocks syndrome and related disordersJ Kohlhase
Human Mutation|January 11, 2000
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancerE Grzybowska, H Zientek, A Jasinska, et al.
Human Mutation|January 11, 2000
Genetic variation in ICF syndrome: evidence for genetic heterogeneityC Wijmenga, R S Hansen, G Gimelli, et al.
Human Mutation|January 11, 2000
BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutationsL Tao, M Boyd, G Gonye, et al.
Human Mutation|January 11, 2000
TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopiaY F Leung, P O Tam, L Baum, et al.
Human Mutation|January 4, 2001
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patientsC Duponchel, C Di Rocco, M Cicardi, et al.
Human Mutation|January 4, 2001
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndromeR Matsukawa, K Iida, M Nakayama, et al.
Human Mutation|January 4, 2001
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15M Bodzioch, K Lapicka, C Aslanidis, et al.
Human Mutation|January 4, 2001
BRCA2 germline mutations in male breast cancer patients in the Polish populationE Kwiatkowska, M Teresiak, K M Lamperska, et al.
Human Mutation|January 4, 2001
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemiaJ R Toone, D A Applegarth, M B Coulter-Mackie, et al.
Pageof 655