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Katheryn Grand

Showing results (31-40 of 40) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, 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 Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, 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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Showing results (31-40 of 40) with videos related to

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You have reached the last page of results.This site can display upto 40 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, 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 Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, 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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