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Current Protocols
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April 19, 2023
Nonrandom X Chromosome Inactivation Detection
Raymond C Caylor
Neural Development
|
May 14, 2013
The Caenorhabditis elegans voltage-gated calcium channel subunits UNC-2 and UNC-36 and the calcium-dependent kinase UNC-43/CaMKII regulate neuromuscular junction morphology
Raymond C Caylor, Yishi Jin, Brian D Ackley
Cold Spring Harbor Molecular Case Studies
|
June 1, 2023
Clinical case report: mosaic <i>ANK3</i> pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay
Xiaolan Fang, Timothy Fee, Jessica Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 2, 2025
A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Marco L Leung, Raymond C Caylor, Olivia D'Annibale, et al.
Genes
|
May 25, 2024
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Jonathan K Merritt, Xiaolan Fang, Raymond C Caylor, et al.
JIMD Reports
|
November 12, 2021
HSD10 disease in a female: A case report and review of literature
Jariya Upadia, Nicolette Walano, Grace S Noh, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2023
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2023
Parental age effects and Rett syndrome
Xiaolan Fang, Lauren M Baggett, Raymond C Caylor, et al.
Molecular Genetics & Genomic Medicine
|
March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Human Molecular Genetics
|
August 18, 2022
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Current Protocols
|
April 19, 2023
Nonrandom X Chromosome Inactivation Detection
Raymond C Caylor
Neural Development
|
May 14, 2013
The Caenorhabditis elegans voltage-gated calcium channel subunits UNC-2 and UNC-36 and the calcium-dependent kinase UNC-43/CaMKII regulate neuromuscular junction morphology
Raymond C Caylor, Yishi Jin, Brian D Ackley
Cold Spring Harbor Molecular Case Studies
|
June 1, 2023
Clinical case report: mosaic <i>ANK3</i> pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay
Xiaolan Fang, Timothy Fee, Jessica Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 2, 2025
A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Marco L Leung, Raymond C Caylor, Olivia D'Annibale, et al.
Genes
|
May 25, 2024
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Jonathan K Merritt, Xiaolan Fang, Raymond C Caylor, et al.
JIMD Reports
|
November 12, 2021
HSD10 disease in a female: A case report and review of literature
Jariya Upadia, Nicolette Walano, Grace S Noh, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2023
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2023
Parental age effects and Rett syndrome
Xiaolan Fang, Lauren M Baggett, Raymond C Caylor, et al.
Molecular Genetics & Genomic Medicine
|
March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Human Molecular Genetics
|
August 18, 2022
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, et al.
Page
of 2