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Nature Communications
|
November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Giulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
Cell Reports
|
August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
American Journal of Medical Genetics. Part A
|
February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Thoa Ha, Angela Morgan, Meghan N Bartos, et al.
NPJ Genomic Medicine
|
May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
American Journal of Human Genetics
|
July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Björn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Sandra Whalen, Marie Shaw, Cyril Mignot, et al.
NPJ Genomic Medicine
|
October 23, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
Journal of Medical Genetics
|
November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)
Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
The Journal of Experimental Medicine
|
February 3, 2017
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Stefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
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of 15
Search research articles
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Showing results (121-130 of 147) with videos related to
Sort By:
Page
of 15
Nature Communications
|
November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Giulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
Cell Reports
|
August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
American Journal of Medical Genetics. Part A
|
February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Thoa Ha, Angela Morgan, Meghan N Bartos, et al.
NPJ Genomic Medicine
|
May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
American Journal of Human Genetics
|
July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Björn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Sandra Whalen, Marie Shaw, Cyril Mignot, et al.
NPJ Genomic Medicine
|
October 23, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
Journal of Medical Genetics
|
November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)
Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
The Journal of Experimental Medicine
|
February 3, 2017
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Stefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
Page
of 15