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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 6, 2025
Tandem splice acceptor sites: Profiling their relevance to human disease
Frederick G Frost, Shaopeng Gu, Adrienne Elbert, et al.
Acta Neuropathologica
|
November 14, 2024
Correction: Multiciliated ependymal cells: an update on biology and pathology in the adult brain
Adam M R Groh, Yeji Lori Song, Fiona Tea, et al.
Acta Neuropathologica
|
September 10, 2024
Multiciliated ependymal cells: an update on biology and pathology in the adult brain
Adam M R Groh, Yeji Lori Song, Fiona Tea, et al.
American Journal of Medical Genetics. Part A
|
January 24, 2024
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis
Duha Hejla, Stephanie Huynh, Simran Samra, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2021
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia
Emilie T Théberge, Bo Sun, Ruiwu Wang, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2022
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
Pierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2022
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice
Hui-Lin Chin, Nour Gazzaz, Stephanie Huynh, et al.
Epilepsia
|
March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 6, 2025
Tandem splice acceptor sites: Profiling their relevance to human disease
Frederick G Frost, Shaopeng Gu, Adrienne Elbert, et al.
Acta Neuropathologica
|
November 14, 2024
Correction: Multiciliated ependymal cells: an update on biology and pathology in the adult brain
Adam M R Groh, Yeji Lori Song, Fiona Tea, et al.
Acta Neuropathologica
|
September 10, 2024
Multiciliated ependymal cells: an update on biology and pathology in the adult brain
Adam M R Groh, Yeji Lori Song, Fiona Tea, et al.
American Journal of Medical Genetics. Part A
|
January 24, 2024
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis
Duha Hejla, Stephanie Huynh, Simran Samra, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2021
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia
Emilie T Théberge, Bo Sun, Ruiwu Wang, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2022
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
Pierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2022
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice
Hui-Lin Chin, Nour Gazzaz, Stephanie Huynh, et al.
Epilepsia
|
March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Page
of 3