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Journal of Genetic Counseling
|
April 29, 2017
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)
Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
Samin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.
Cardiology and Therapy
|
May 27, 2026
Contemporary Description of Clinical Characteristics and Outcomes in Patients with Hereditary ATTR Amyloidosis: Results from the Multicountry OverTTuRe Study
Kevin M Alexander, Shun Kohsaka, Steen Hvitfeldt Poulsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
Devin Oglesbee, Miao He, Nilanjana Majumder, et al.
Annals of Surgical Oncology
|
October 26, 2025
Development and Validation of EsoTIME, a Prognostication Tool for Resected Esophageal and Gastroesophageal Cancer
Lyndsay D Harrison, Vaibhav Gupta, Monica Yuen, et al.
Annals of Surgical Oncology
|
November 14, 2025
ASO Visual Abstract: Development and Validation of EsoTIME, a Prognostication Tool for Resected Esophageal and Gastroesophageal Cancer
Lyndsay D Harrison, Vaibhav Gupta, Monica Yuen, et al.
Molecular Genetics and Metabolism Reports
|
January 16, 2025
Lessons learned from 5 years of pegvaliase in US clinics: A case series
Erin Cooney, Zineb Ammous, Tricia Bender, et al.
Women'S Health Issues : Official Publication of the Jacobs Institute of Women'S Health
|
June 18, 2025
Perception of Having Enough Information to Make Contraceptive Decisions: A Novel Metric of Person-Centered Contraceptive Access
Ariana H Bennett, Alex Schulte, Jennet Arcara, et al.
European Journal of Medical Genetics
|
January 20, 2020
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
Anne Slavotinek, Johanna M van Hagen, Louisa Kalsner, et al.
Molecular Genetics and Metabolism
|
February 17, 2024
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
Caide Bier, Kaelin Dickey, Brittan Bibb, et al.
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Search research articles
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Showing results (51-60 of 82) with videos related to
Sort By:
Page
of 9
Journal of Genetic Counseling
|
April 29, 2017
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)
Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
Samin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.
Cardiology and Therapy
|
May 27, 2026
Contemporary Description of Clinical Characteristics and Outcomes in Patients with Hereditary ATTR Amyloidosis: Results from the Multicountry OverTTuRe Study
Kevin M Alexander, Shun Kohsaka, Steen Hvitfeldt Poulsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
Devin Oglesbee, Miao He, Nilanjana Majumder, et al.
Annals of Surgical Oncology
|
October 26, 2025
Development and Validation of EsoTIME, a Prognostication Tool for Resected Esophageal and Gastroesophageal Cancer
Lyndsay D Harrison, Vaibhav Gupta, Monica Yuen, et al.
Annals of Surgical Oncology
|
November 14, 2025
ASO Visual Abstract: Development and Validation of EsoTIME, a Prognostication Tool for Resected Esophageal and Gastroesophageal Cancer
Lyndsay D Harrison, Vaibhav Gupta, Monica Yuen, et al.
Molecular Genetics and Metabolism Reports
|
January 16, 2025
Lessons learned from 5 years of pegvaliase in US clinics: A case series
Erin Cooney, Zineb Ammous, Tricia Bender, et al.
Women'S Health Issues : Official Publication of the Jacobs Institute of Women'S Health
|
June 18, 2025
Perception of Having Enough Information to Make Contraceptive Decisions: A Novel Metric of Person-Centered Contraceptive Access
Ariana H Bennett, Alex Schulte, Jennet Arcara, et al.
European Journal of Medical Genetics
|
January 20, 2020
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
Anne Slavotinek, Johanna M van Hagen, Louisa Kalsner, et al.
Molecular Genetics and Metabolism
|
February 17, 2024
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
Caide Bier, Kaelin Dickey, Brittan Bibb, et al.
Page
of 9