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Showing results (21-30 of 30) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
American Journal of Human Genetics|November 5, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
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Showing results (21-30 of 30) with videos related to

Sort By:
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You have reached the last page of results.This site can display upto 30 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
American Journal of Human Genetics|November 5, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
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