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American Journal of Medical Genetics. Part A
|
July 26, 2024
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet
Aaron B Bowen, Otto Rapalino, Camilo Jaimes, et al.
The Journal of Pediatrics
|
April 24, 2018
Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
Nina B Gold, Jennifer A Blumenthal, Ann E Wessel, et al.
HGG Advances
|
August 18, 2023
Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants
Jessica I Gold, Sarina Madhavan, Joseph Park, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2024
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I
Lauren O Grady, Emilie S Zoltick, Hana Zouk, et al.
HGG Advances
|
July 28, 2025
De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies
Erfan Aref-Eshghi, Ingrid M Wentzensen, Tawfeg Ben-Omran, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
Alanna Strong, Cara Skraban, Kevin Meyers, et al.
Science Translational Medicine
|
November 11, 2016
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
Pradeep Natarajan, Nina B Gold, Alexander G Bick, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 24, 2023
Are we prepared to deliver gene-targeted therapies for rare diseases?
Timothy W Yu, Stephen F Kingsmore, Robert C Green, et al.
Clinical Genetics
|
October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
Nina B Gold, Dong Li, Anna Chassevent, 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.
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of 5
Search research articles
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Showing results (21-30 of 46) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
July 26, 2024
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet
Aaron B Bowen, Otto Rapalino, Camilo Jaimes, et al.
The Journal of Pediatrics
|
April 24, 2018
Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
Nina B Gold, Jennifer A Blumenthal, Ann E Wessel, et al.
HGG Advances
|
August 18, 2023
Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants
Jessica I Gold, Sarina Madhavan, Joseph Park, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2024
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I
Lauren O Grady, Emilie S Zoltick, Hana Zouk, et al.
HGG Advances
|
July 28, 2025
De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies
Erfan Aref-Eshghi, Ingrid M Wentzensen, Tawfeg Ben-Omran, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
Alanna Strong, Cara Skraban, Kevin Meyers, et al.
Science Translational Medicine
|
November 11, 2016
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
Pradeep Natarajan, Nina B Gold, Alexander G Bick, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 24, 2023
Are we prepared to deliver gene-targeted therapies for rare diseases?
Timothy W Yu, Stephen F Kingsmore, Robert C Green, et al.
Clinical Genetics
|
October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
Nina B Gold, Dong Li, Anna Chassevent, 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.
Page
of 5