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Rachel Rabin

Showing results (11-20 of 36) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|December 21, 2021
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca<sup>2+</sup> regulationMatthew Halvorsen, Laura Gould, Xiaohan Wang, et al.
Clinical Genetics|May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsySugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
The Journal of Clinical Investigation|February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humansSally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.
Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
Eclinicalmedicine|September 21, 2023
Association between cannabis use and symptom dimensions in schizophrenia spectrum disorders: an individual participant data meta-analysis on 3053 individualsMathilde Argote, Guillaume Sescousse, Jérôme Brunelin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

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Pageof 4
Proceedings of the National Academy of Sciences of the United States of America|December 21, 2021
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca<sup>2+</sup> regulationMatthew Halvorsen, Laura Gould, Xiaohan Wang, et al.
Clinical Genetics|May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsySugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
The Journal of Clinical Investigation|February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humansSally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.
Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
Eclinicalmedicine|September 21, 2023
Association between cannabis use and symptom dimensions in schizophrenia spectrum disorders: an individual participant data meta-analysis on 3053 individualsMathilde Argote, Guillaume Sescousse, Jérôme Brunelin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
Pageof 4