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Nathaniel H Robin

Showing results (111-120 of 118) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
Journal of Medical Genetics|December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 12

Showing results (111-120 of 118) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 118 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
Journal of Medical Genetics|December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
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