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Nathaniel H Robin

Showing results (101-110 of 118) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patrick R Gonzales, Erica F Andersen, Teneille R Brown, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Cohen syndrome in the Ohio AmishMarni J Falk, Heidi S Feiler, Derek E Neilson, et al.
Human Genetics|August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyRyan K Thorpe, Hela Azaiez, Peina Wu, et al.
Human Genetics|March 2, 2011
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayRachel D Burnside, Romela Pasion, Fady M Mikhail, et al.
Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Additional EFNB1 mutations in craniofrontonasal syndromeDeeann Wallis, Felicitas Lacbawan, Mahim Jain, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Molecular Psychiatry|June 15, 2026
Evidence supporting the role of GIGYF2 in synapse development and autismBin Yu, Shimeng Zhu, Linhu Xiao, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
Pageof 12

Showing results (101-110 of 118) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patrick R Gonzales, Erica F Andersen, Teneille R Brown, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Cohen syndrome in the Ohio AmishMarni J Falk, Heidi S Feiler, Derek E Neilson, et al.
Human Genetics|August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyRyan K Thorpe, Hela Azaiez, Peina Wu, et al.
Human Genetics|March 2, 2011
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayRachel D Burnside, Romela Pasion, Fady M Mikhail, et al.
Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Additional EFNB1 mutations in craniofrontonasal syndromeDeeann Wallis, Felicitas Lacbawan, Mahim Jain, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Molecular Psychiatry|June 15, 2026
Evidence supporting the role of GIGYF2 in synapse development and autismBin Yu, Shimeng Zhu, Linhu Xiao, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
Pageof 12