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Journal of Genetic Counseling
|
August 20, 2025
Prospective parents' views on reproductive genetic carrier screening: "You know better, you do better"
Chaya M Goldman, Sharon Lewis, John Massie, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2003
D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses
Nigel F Clarke, Ian Andrews, Kevin Carpenter, et al.
American Journal of Medical Genetics. Part A
|
March 16, 2013
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions
Paul R Mark, Brian C Radlinski, Nathalie Core, et al.
European Journal of Human Genetics : EJHG
|
November 26, 2024
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions
Lucinda Freeman, Alison D Archibald, Lisa Dive, et al.
Australian Journal of General Practice
|
July 1, 2019
Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners
Martin B Delatycki, Nigel G Laing, Sarah J Moore, et al.
The Journal of Pediatrics
|
July 26, 2011
Cardiac disease in methylmalonic acidemia
Carlos E Prada, Fatma Al Jasmi, Edwin P Kirk, et al.
Medicine
|
March 1, 2019
Case report of a child bearing a novel deleterious splicing variant in PIGT
Samantha Mason, Laura Castilla-Vallmanya, Con James, et al.
Journal of the American College of Cardiology
|
February 18, 2017
Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide
Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, et al.
European Journal of Medical Genetics
|
January 30, 2008
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant
Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Human Mutation
|
July 5, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones
Cristina Segovia-Falquina, Alicia Vilas, Fátima Leal, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 117) with videos related to
Sort By:
Page
of 12
Journal of Genetic Counseling
|
August 20, 2025
Prospective parents' views on reproductive genetic carrier screening: "You know better, you do better"
Chaya M Goldman, Sharon Lewis, John Massie, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2003
D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses
Nigel F Clarke, Ian Andrews, Kevin Carpenter, et al.
American Journal of Medical Genetics. Part A
|
March 16, 2013
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions
Paul R Mark, Brian C Radlinski, Nathalie Core, et al.
European Journal of Human Genetics : EJHG
|
November 26, 2024
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions
Lucinda Freeman, Alison D Archibald, Lisa Dive, et al.
Australian Journal of General Practice
|
July 1, 2019
Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners
Martin B Delatycki, Nigel G Laing, Sarah J Moore, et al.
The Journal of Pediatrics
|
July 26, 2011
Cardiac disease in methylmalonic acidemia
Carlos E Prada, Fatma Al Jasmi, Edwin P Kirk, et al.
Medicine
|
March 1, 2019
Case report of a child bearing a novel deleterious splicing variant in PIGT
Samantha Mason, Laura Castilla-Vallmanya, Con James, et al.
Journal of the American College of Cardiology
|
February 18, 2017
Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide
Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, et al.
European Journal of Medical Genetics
|
January 30, 2008
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant
Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Human Mutation
|
July 5, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones
Cristina Segovia-Falquina, Alicia Vilas, Fátima Leal, et al.
Page
of 12