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David Chitayat

Showing results (311-320 of 354) with videos related to

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EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Science (New York, N.Y.)|July 10, 2021
Mapping the cellular origin and early evolution of leukemia in Down syndromeElvin Wagenblast, Joana Araújo, Olga I Gan, et al.
American Journal of Human Genetics|February 7, 2008
Structural variation of chromosomes in autism spectrum disorderChristian R Marshall, Abdul Noor, John B Vincent, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|September 18, 2016
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer TestingR Douglas Wilson, Isabelle De Bie, Christine M Armour, et al.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Journal of Medical Genetics|June 26, 2020
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort studySalma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
Human Mutation|May 1, 2008
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M Boon, John B Mulliken, et al.
Pageof 36

Showing results (311-320 of 354) with videos related to

Sort By:
Pageof 36
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Science (New York, N.Y.)|July 10, 2021
Mapping the cellular origin and early evolution of leukemia in Down syndromeElvin Wagenblast, Joana Araújo, Olga I Gan, et al.
American Journal of Human Genetics|February 7, 2008
Structural variation of chromosomes in autism spectrum disorderChristian R Marshall, Abdul Noor, John B Vincent, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|September 18, 2016
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer TestingR Douglas Wilson, Isabelle De Bie, Christine M Armour, et al.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Journal of Medical Genetics|June 26, 2020
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort studySalma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
Human Mutation|May 1, 2008
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M Boon, John B Mulliken, et al.
Pageof 36