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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 6, 2018
Foundation of the Newborn Screening Translational Research Network and its tools for research
Michele Lloyd-Puryear, Amy Brower, Susan A Berry, et al.
Molecular Genetics and Metabolism
|
March 13, 2025
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes
Margo Sheck Breilyn, Kara Simpson, Sara A Elsbecker, et al.
JIMD Reports
|
July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature review
Laurien Vaes, George E Tiller, Belén Pérez, et al.
The New England Journal of Medicine
|
June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M Enns, Susan A Berry, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2020
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020)
Elizabeth I Pierpont, Susan A Berry, Angela E Lin, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
August 18, 2004
Ophthalmic manifestations of Wolf-Hirschhorn syndrome
Wen Y Wu-Chen, Stephen P Christiansen, Susan A Berry, et al.
Molecular Genetics and Metabolism Reports
|
June 9, 2022
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database
Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics
|
April 29, 2020
Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics
Susan M Wolf, Pilar N Ossorio, Susan A Berry, et al.
Molecular Genetics and Metabolism
|
August 12, 2025
The PKU Patient Registry: Development of a patient-driven registry and initial outcomes
Lauren Youngborg, Christine S Brown, Eileen M Blakely, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2011
Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening
Lisa A Schimmenti, Berta Warman, Mark R Schleiss, et al.
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of 8
Search research articles
Search
Showing results (21-30 of 74) with videos related to
Sort By:
Page
of 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 6, 2018
Foundation of the Newborn Screening Translational Research Network and its tools for research
Michele Lloyd-Puryear, Amy Brower, Susan A Berry, et al.
Molecular Genetics and Metabolism
|
March 13, 2025
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes
Margo Sheck Breilyn, Kara Simpson, Sara A Elsbecker, et al.
JIMD Reports
|
July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature review
Laurien Vaes, George E Tiller, Belén Pérez, et al.
The New England Journal of Medicine
|
June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M Enns, Susan A Berry, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2020
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020)
Elizabeth I Pierpont, Susan A Berry, Angela E Lin, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
August 18, 2004
Ophthalmic manifestations of Wolf-Hirschhorn syndrome
Wen Y Wu-Chen, Stephen P Christiansen, Susan A Berry, et al.
Molecular Genetics and Metabolism Reports
|
June 9, 2022
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database
Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics
|
April 29, 2020
Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics
Susan M Wolf, Pilar N Ossorio, Susan A Berry, et al.
Molecular Genetics and Metabolism
|
August 12, 2025
The PKU Patient Registry: Development of a patient-driven registry and initial outcomes
Lauren Youngborg, Christine S Brown, Eileen M Blakely, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2011
Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening
Lisa A Schimmenti, Berta Warman, Mark R Schleiss, et al.
Page
of 8