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Showing results (431-440 of 551) with videos related to

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Iscience|April 20, 2026
Changes in the chemical defenses of an invasive toad indicate drivers and limitations of adaptationMax Mühlenhaupt, James Baxter-Gilbert, Julia L Riley, et al.
Human Genetics|August 8, 2014
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorderIltaf Ahmed, Kirti Mittal, Taimoor I Sheikh, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Molecular Psychiatry|June 15, 2026
Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communicationSangyoon Y Ko, Stephen F Pastore, Sungmo Park, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
Psychiatric Genetics|July 26, 2000
Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophreniaT Bowen, C A Guy, A G Cardno, et al.
Annals of Human Genetics|March 15, 2019
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutationsHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Pageof 56

Showing results (431-440 of 551) with videos related to

Sort By:
Pageof 56
Iscience|April 20, 2026
Changes in the chemical defenses of an invasive toad indicate drivers and limitations of adaptationMax Mühlenhaupt, James Baxter-Gilbert, Julia L Riley, et al.
Human Genetics|August 8, 2014
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorderIltaf Ahmed, Kirti Mittal, Taimoor I Sheikh, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Molecular Psychiatry|June 15, 2026
Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communicationSangyoon Y Ko, Stephen F Pastore, Sungmo Park, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
Psychiatric Genetics|July 26, 2000
Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophreniaT Bowen, C A Guy, A G Cardno, et al.
Annals of Human Genetics|March 15, 2019
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutationsHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Pageof 56