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American Journal of Medical Genetics. Part A
|
July 17, 2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
Sarika U Peters, Lynne M Bird, Virginia Kimonis, et al.
Biological Psychiatry
|
March 4, 2019
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes
Joel Frohlich, Meghan T Miller, Lynne M Bird, et al.
American Journal of Human Genetics
|
November 6, 2020
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
David P Dimmock, Michelle M Clark, Mary Gaughran, et al.
American Journal of Medical Genetics. Part A
|
July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene
Natasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
The Journal of Experimental Medicine
|
October 28, 2015
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection
Kyla D Omilusik, J Adam Best, Bingfei Yu, et al.
American Journal on Intellectual and Developmental Disabilities
|
January 3, 2022
Anxiety in Angelman Syndrome
Stacey C Grebe, Danica L Limon, Morgan M McNeel, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
August 24, 2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
Jennifer K Gentile, Wen-Hann Tan, Lucia T Horowitz, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 13, 2023
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial
Jennifer L Miller, Evelien Gevers, Nicola Bridges, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
Lynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
Prenatal Diagnosis
|
August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
Courtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
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of 12
Search research articles
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Showing results (71-80 of 120) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part A
|
July 17, 2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
Sarika U Peters, Lynne M Bird, Virginia Kimonis, et al.
Biological Psychiatry
|
March 4, 2019
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes
Joel Frohlich, Meghan T Miller, Lynne M Bird, et al.
American Journal of Human Genetics
|
November 6, 2020
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
David P Dimmock, Michelle M Clark, Mary Gaughran, et al.
American Journal of Medical Genetics. Part A
|
July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene
Natasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
The Journal of Experimental Medicine
|
October 28, 2015
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection
Kyla D Omilusik, J Adam Best, Bingfei Yu, et al.
American Journal on Intellectual and Developmental Disabilities
|
January 3, 2022
Anxiety in Angelman Syndrome
Stacey C Grebe, Danica L Limon, Morgan M McNeel, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
August 24, 2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
Jennifer K Gentile, Wen-Hann Tan, Lucia T Horowitz, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 13, 2023
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial
Jennifer L Miller, Evelien Gevers, Nicola Bridges, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
Lynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
Prenatal Diagnosis
|
August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
Courtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Page
of 12