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Human mutation

Showing results (461-470 of 6,541) with videos related to

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Human Mutation|May 11, 2019
Using secondary structure to predict the effects of genetic variants on alternative splicingRobert Wang, Yaqiong Wang, Zhiqiang Hu
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
Human Mutation|March 25, 2022
Re-evaluation of missense variant classifications in NF2Katherine V Sadler, Charlie F Rowlands, Philip T Smith, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Human Mutation|January 29, 2000
Mutations in the human TWIST geneK W Gripp, E H Zackai, C A Stolle
Human Mutation|October 26, 1999
Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset caseD J Halsall, E P Halligan, T S Elsey, et al.
Human Mutation|October 26, 1999
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigreeA S Khoo, P Balraj, A Rachedi, et al.
Human Mutation|October 26, 1999
Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]N Bissar-Tadmouri, Y Gulsen-Parman, P Latour, et al.
Human Mutation|October 26, 1999
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosisN Lévy, R Bernard-Bronsard, A M Lossi, et al.
Human Mutation|October 26, 1999
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndromeL A Schimmenti, H H Shim, J D Wirtschafter, et al.
Pageof 655

Showing results (461-470 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|May 11, 2019
Using secondary structure to predict the effects of genetic variants on alternative splicingRobert Wang, Yaqiong Wang, Zhiqiang Hu
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
Human Mutation|March 25, 2022
Re-evaluation of missense variant classifications in NF2Katherine V Sadler, Charlie F Rowlands, Philip T Smith, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
Human Mutation|January 29, 2000
Mutations in the human TWIST geneK W Gripp, E H Zackai, C A Stolle
Human Mutation|October 26, 1999
Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset caseD J Halsall, E P Halligan, T S Elsey, et al.
Human Mutation|October 26, 1999
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigreeA S Khoo, P Balraj, A Rachedi, et al.
Human Mutation|October 26, 1999
Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]N Bissar-Tadmouri, Y Gulsen-Parman, P Latour, et al.
Human Mutation|October 26, 1999
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosisN Lévy, R Bernard-Bronsard, A M Lossi, et al.
Human Mutation|October 26, 1999
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndromeL A Schimmenti, H H Shim, J D Wirtschafter, et al.
Pageof 655