Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Robert Kleyner

Showing results (1-10 of 10) with videos related to

Pageof 1
Sort By:
Cureus|April 11, 2022
Capecitabine-Induced EnterocolitisMuzammil Khan, Robert Kleyner, Sadia Abbasi, et al.
Cold Spring Harbor Molecular Case Studies|October 11, 2023
<i>ITPR1</i>-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicismRobert Kleyner, Nathaniel Ung, Mohammad Arif, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>Robert Kleyner, Janet Malcolmson, David Tegay, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinityRobert Kleyner, Mohammad Arif, Elaine Marchi, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
<i>SCN8A</i> mutation in a child presenting with seizures and developmental delaysJanet Malcolmson, Robert Kleyner, David Tegay, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Human Molecular Genetics|February 7, 2020
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Cureus|April 11, 2022
Capecitabine-Induced EnterocolitisMuzammil Khan, Robert Kleyner, Sadia Abbasi, et al.
Cold Spring Harbor Molecular Case Studies|October 11, 2023
<i>ITPR1</i>-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicismRobert Kleyner, Nathaniel Ung, Mohammad Arif, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>Robert Kleyner, Janet Malcolmson, David Tegay, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinityRobert Kleyner, Mohammad Arif, Elaine Marchi, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
<i>SCN8A</i> mutation in a child presenting with seizures and developmental delaysJanet Malcolmson, Robert Kleyner, David Tegay, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Human Molecular Genetics|February 7, 2020
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 1