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Molecular Genetics & Genomic Medicine
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October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort
Clara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 16, 2022
Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al
Sarah Righetti, Lisa Dive, Alison D Archibald, et al.
Circulation Research
|
February 18, 2006
Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse
Edwin P Kirk, Changbaig Hyun, Peter C Thomson, et al.
Journal of the American College of Cardiology
|
June 12, 2003
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome
David A Elliott, Edwin P Kirk, Thomas Yeoh, et al.
International Journal of Cardiology
|
December 20, 2016
The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease
Gillian M Blue, David Humphreys, Justin Szot, et al.
American Journal of Medical Genetics. Part A
|
November 2, 2011
Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart
Giorgia Esposito, Tanya L Butler, Gillian M Blue, et al.
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
American Heart Journal
|
June 19, 2018
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
Gillian M Blue, Eddie Ip, Karen Walker, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Michaela Yuen, Lisa Worgan, Jessika Iwanski, et al.
European Journal of Human Genetics : EJHG
|
July 9, 2025
Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening
Erin Tutty, Belinda J McClaren, Sharon Lewis, et al.
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of 12
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Showing results (51-60 of 117) with videos related to
Sort By:
Page
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Molecular Genetics & Genomic Medicine
|
October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort
Clara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 16, 2022
Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al
Sarah Righetti, Lisa Dive, Alison D Archibald, et al.
Circulation Research
|
February 18, 2006
Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse
Edwin P Kirk, Changbaig Hyun, Peter C Thomson, et al.
Journal of the American College of Cardiology
|
June 12, 2003
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome
David A Elliott, Edwin P Kirk, Thomas Yeoh, et al.
International Journal of Cardiology
|
December 20, 2016
The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease
Gillian M Blue, David Humphreys, Justin Szot, et al.
American Journal of Medical Genetics. Part A
|
November 2, 2011
Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart
Giorgia Esposito, Tanya L Butler, Gillian M Blue, et al.
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
American Heart Journal
|
June 19, 2018
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
Gillian M Blue, Eddie Ip, Karen Walker, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Michaela Yuen, Lisa Worgan, Jessika Iwanski, et al.
European Journal of Human Genetics : EJHG
|
July 9, 2025
Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening
Erin Tutty, Belinda J McClaren, Sharon Lewis, et al.
Page
of 12