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Human mutation

Showing results (341-350 of 6,541) with videos related to

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Human Mutation|August 19, 2006
Structural assessment of single amino acid mutations: application to TP53 functionYum L Yip, Vincent Zoete, Holger Scheib, et al.
Human Mutation|August 19, 2006
Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoformAnn-Marie Bergin, Barbro Balder, Shivendra Kishore, et al.
Human Mutation|September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counselingValérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
Human Mutation|August 9, 2005
The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequencesFrançoise Charbonnier, Stephanie Baert-Desurmont, Ping Liang, et al.
Human Mutation|August 9, 2005
Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex whole genome amplified DNA generated from multiple DNA sourcesAndrew W Bergen, Kashif A Haque, Ying Qi, et al.
Human Mutation|August 9, 2005
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disordersJürgen Kohlhase, David Chitayat, Dieter Kotzot, et al.
Human Mutation|May 9, 2007
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)Stefan Aretz, Dietlinde Stienen, Nicolaus Friedrichs, et al.
Human Mutation|November 30, 2022
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsDaffodil Canson, Dylan Glubb, Amanda B Spurdle
Human Mutation|June 28, 2022
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordomaBing Xia, Kajal Biswas, Tzeh K Foo, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
Pageof 655

Showing results (341-350 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|August 19, 2006
Structural assessment of single amino acid mutations: application to TP53 functionYum L Yip, Vincent Zoete, Holger Scheib, et al.
Human Mutation|August 19, 2006
Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoformAnn-Marie Bergin, Barbro Balder, Shivendra Kishore, et al.
Human Mutation|September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counselingValérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
Human Mutation|August 9, 2005
The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequencesFrançoise Charbonnier, Stephanie Baert-Desurmont, Ping Liang, et al.
Human Mutation|August 9, 2005
Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex whole genome amplified DNA generated from multiple DNA sourcesAndrew W Bergen, Kashif A Haque, Ying Qi, et al.
Human Mutation|August 9, 2005
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disordersJürgen Kohlhase, David Chitayat, Dieter Kotzot, et al.
Human Mutation|May 9, 2007
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)Stefan Aretz, Dietlinde Stienen, Nicolaus Friedrichs, et al.
Human Mutation|November 30, 2022
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsDaffodil Canson, Dylan Glubb, Amanda B Spurdle
Human Mutation|June 28, 2022
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordomaBing Xia, Kajal Biswas, Tzeh K Foo, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
Pageof 655