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Human genome variation

Showing results (11-20 of 525) with videos related to

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Human Genome Variation|October 25, 2019
Breakpoint junction features of seven DMD deletion mutationsNiall P Keegan, Steve D Wilton, Sue Fletcher
Human Genome Variation|October 25, 2019
Rapid screening of copy number variations in <i>STR</i>C by droplet digital PCR in patients with mild-to-moderate hearing lossTaku Ito, Yoshiyuki Kawashima, Taro Fujikawa, et al.
Human Genome Variation|May 15, 2021
A novel COL4A1 variant associated with recurrent epistaxis and glioblastomaKohei Muto, Ryosuke Miyamoto, Yuka Terasawa, et al.
Human Genome Variation|June 19, 2020
Unusual context of <i>CENPJ</i> variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patientAnna M Cueto-González, Mónica Fernández-Cancio, Paula Fernández-Alvarez, et al.
Human Genome Variation|December 18, 2021
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorderKazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, et al.
Human Genome Variation|October 26, 2022
An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndromeOlga A Vostrukhina, Elena D Mirlina, Darya N Khmelkova, et al.
Human Genome Variation|April 16, 2016
A new sister journal to the Journal of Human Genetics-for the interest and benefit of the global community of human genome researchersKatsushi Tokunaga
Human Genome Variation|April 16, 2016
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndromeToshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, et al.
Human Genome Variation|April 16, 2016
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian PopulationGabriela Es Felix, Camila Abe-Sandes, Taísa Mb Machado-Lopes, et al.
Human Genome Variation|April 16, 2016
Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemiaFaisal A Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, et al.
Pageof 53

Showing results (11-20 of 525) with videos related to

Sort By:
Pageof 53
Human Genome Variation|October 25, 2019
Breakpoint junction features of seven DMD deletion mutationsNiall P Keegan, Steve D Wilton, Sue Fletcher
Human Genome Variation|October 25, 2019
Rapid screening of copy number variations in <i>STR</i>C by droplet digital PCR in patients with mild-to-moderate hearing lossTaku Ito, Yoshiyuki Kawashima, Taro Fujikawa, et al.
Human Genome Variation|May 15, 2021
A novel COL4A1 variant associated with recurrent epistaxis and glioblastomaKohei Muto, Ryosuke Miyamoto, Yuka Terasawa, et al.
Human Genome Variation|June 19, 2020
Unusual context of <i>CENPJ</i> variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patientAnna M Cueto-González, Mónica Fernández-Cancio, Paula Fernández-Alvarez, et al.
Human Genome Variation|December 18, 2021
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorderKazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, et al.
Human Genome Variation|October 26, 2022
An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndromeOlga A Vostrukhina, Elena D Mirlina, Darya N Khmelkova, et al.
Human Genome Variation|April 16, 2016
A new sister journal to the Journal of Human Genetics-for the interest and benefit of the global community of human genome researchersKatsushi Tokunaga
Human Genome Variation|April 16, 2016
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndromeToshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, et al.
Human Genome Variation|April 16, 2016
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian PopulationGabriela Es Felix, Camila Abe-Sandes, Taísa Mb Machado-Lopes, et al.
Human Genome Variation|April 16, 2016
Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemiaFaisal A Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, et al.
Pageof 53