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Susan A Berry

Showing results (11-20 of 74) with videos related to

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American Journal of Medical Genetics. Part A|March 17, 2021
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental courseNishitha R Pillai, Dana Miller, Elizabeth I Pierpont, et al.
American Journal of Medical Genetics. Part A|September 15, 2015
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosisNathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, et al.
American Journal of Medical Genetics. Part A|December 14, 2021
Rare presentation of FDX2-related disorder and untargeted global metabolomics findingsAnjali Aggarwal, Nishitha R Pillai, Charles J Billington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2005
Newborn blood spot screening and genetic services: a survey of Minnesota primary care physiciansDiane B Thompson, Mary J Ahrens, Bonnie S LeRoy, et al.
Therapeutic Advances in Rare Disease|May 23, 2024
Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disordersEileen Sullivan Baker, Jennifer Botham, Tasia Rechisky, et al.
Journal of Child Neurology|July 29, 2008
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuriaLisa Bishop, Richard Kanoff, Lawrence Charnas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditionsSusan A Berry, Nancy D Leslie, Mathew J Edick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2010
A novel microdeletion/microduplication syndrome of 19p13.13Michelle Dolan, Nancy J Mendelsohn, Mary Ella Pierpont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Developing interactions with industry in rare diseases: lessons learned and continuing challengesSusan A Berry, Curtis R Coughlin, Shawn McCandless, et al.
Pediatrics|February 9, 2020
Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical NeedSusan A Berry, Christine S Brown, Carol Greene, et al.
Pageof 8

Showing results (11-20 of 74) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|March 17, 2021
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental courseNishitha R Pillai, Dana Miller, Elizabeth I Pierpont, et al.
American Journal of Medical Genetics. Part A|September 15, 2015
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosisNathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, et al.
American Journal of Medical Genetics. Part A|December 14, 2021
Rare presentation of FDX2-related disorder and untargeted global metabolomics findingsAnjali Aggarwal, Nishitha R Pillai, Charles J Billington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2005
Newborn blood spot screening and genetic services: a survey of Minnesota primary care physiciansDiane B Thompson, Mary J Ahrens, Bonnie S LeRoy, et al.
Therapeutic Advances in Rare Disease|May 23, 2024
Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disordersEileen Sullivan Baker, Jennifer Botham, Tasia Rechisky, et al.
Journal of Child Neurology|July 29, 2008
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuriaLisa Bishop, Richard Kanoff, Lawrence Charnas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditionsSusan A Berry, Nancy D Leslie, Mathew J Edick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2010
A novel microdeletion/microduplication syndrome of 19p13.13Michelle Dolan, Nancy J Mendelsohn, Mary Ella Pierpont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Developing interactions with industry in rare diseases: lessons learned and continuing challengesSusan A Berry, Curtis R Coughlin, Shawn McCandless, et al.
Pediatrics|February 9, 2020
Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical NeedSusan A Berry, Christine S Brown, Carol Greene, et al.
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