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Katheryn Grand

Showing results (21-30 of 40) with videos related to

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Cellular and Molecular Life Sciences : CMLS|March 31, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel openingLingling Xie, Miranda J McDaniel, Riley E Perszyk, et al.
Annals of Clinical and Translational Neurology|November 3, 2022
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profileMichelle M Lee, Graeme S V McDowell, Darryl C De Vivo, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, et al.
American Journal of Human Genetics|July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial FeaturesCara M Skraban, Constance F Wells, Preetha Markose, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Cellular and Molecular Life Sciences : CMLS|March 31, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel openingLingling Xie, Miranda J McDaniel, Riley E Perszyk, et al.
Annals of Clinical and Translational Neurology|November 3, 2022
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profileMichelle M Lee, Graeme S V McDowell, Darryl C De Vivo, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, et al.
American Journal of Human Genetics|July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial FeaturesCara M Skraban, Constance F Wells, Preetha Markose, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Pageof 4