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American Journal of Medical Genetics. Part A
|
May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
Alanna Strong, Caoimhe McKenna, Karen Stals, et al.
The Journal of Clinical Investigation
|
April 3, 2012
Activation of ER stress and mTORC1 suppresses hepatic sortilin-1 levels in obese mice
Ding Ai, Juan M Baez, Hongfeng Jiang, et al.
American Journal of Human Genetics
|
April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings list
Jennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks
Nina B Gold, Hana Zouk, Julie Yeo, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
European Journal of Human Genetics : EJHG
|
September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
Amir Hossein Saeidian, Michael E March, Leila Youssefian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 27, 2020
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Dong Li, Alanna Strong, Kaitlyn M Shen, et al.
The Journal of Clinical Investigation
|
July 4, 2012
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism
Alanna Strong, Qiurong Ding, Andrew C Edmondson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
Alanna Strong, Michael E March, Christopher J Cardinale, et al.
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Search research articles
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Showing results (51-60 of 69) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
Alanna Strong, Caoimhe McKenna, Karen Stals, et al.
The Journal of Clinical Investigation
|
April 3, 2012
Activation of ER stress and mTORC1 suppresses hepatic sortilin-1 levels in obese mice
Ding Ai, Juan M Baez, Hongfeng Jiang, et al.
American Journal of Human Genetics
|
April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings list
Jennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks
Nina B Gold, Hana Zouk, Julie Yeo, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
European Journal of Human Genetics : EJHG
|
September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
Amir Hossein Saeidian, Michael E March, Leila Youssefian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 27, 2020
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Dong Li, Alanna Strong, Kaitlyn M Shen, et al.
The Journal of Clinical Investigation
|
July 4, 2012
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism
Alanna Strong, Qiurong Ding, Andrew C Edmondson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
Alanna Strong, Michael E March, Christopher J Cardinale, et al.
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of 7