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Amy Goldstein

Showing results (31-40 of 104) with videos related to

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Molecular Genetics and Metabolism|May 30, 2019
Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United StatesAmel Karaa, Amy Goldstein, Cristy Balcells, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomicsPeter Witters, Ann Saada, Tomas Honzik, et al.
American Journal of Medical Genetics. Part A|April 14, 2015
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disordersJie Hu, Malini Sathanoori, Sally Kochmar, et al.
Molecular Genetics and Metabolism|February 28, 2025
Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathwayMatthew M Demczko, Rebecca D Ganetzky, Cassandra Tormey, et al.
Pediatric Pulmonology|September 3, 2010
Predictors of insufficient sweat production during confirmatory testing for cystic fibrosisMary Kleyn, Steven Korzeniewski, Violanda Grigorescu, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|September 27, 2022
A Tale of Progressive Painless Vision Loss in a 64-Year-Old Man Due to Leber Hereditary Optic NeuropathyMoe H Aung, Nicholas J Volpe, Daniel J Choi, et al.
Molecular Genetics and Metabolism|February 26, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosisRory J Tinker, Marni J Falk, Amy Goldstein, et al.
Clinical Genetics|August 11, 2025
RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial MyopathyAmel Karaa, Amy Goldstein, Bruce H Cohen, et al.
Neurology|August 1, 2023
Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene DeficiencyJennifer Morganroth, Lovisa Ljungberg, Amy Goldstein, et al.
Pediatric Pulmonology|January 10, 2018
Emergency airway and ventilator procedures for community based home care staff validation of an educational programAnn Marie Ramsey, Sarah Brennan, Adam Stricker, et al.
Pageof 11

Showing results (31-40 of 104) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|May 30, 2019
Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United StatesAmel Karaa, Amy Goldstein, Cristy Balcells, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomicsPeter Witters, Ann Saada, Tomas Honzik, et al.
American Journal of Medical Genetics. Part A|April 14, 2015
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disordersJie Hu, Malini Sathanoori, Sally Kochmar, et al.
Molecular Genetics and Metabolism|February 28, 2025
Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathwayMatthew M Demczko, Rebecca D Ganetzky, Cassandra Tormey, et al.
Pediatric Pulmonology|September 3, 2010
Predictors of insufficient sweat production during confirmatory testing for cystic fibrosisMary Kleyn, Steven Korzeniewski, Violanda Grigorescu, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|September 27, 2022
A Tale of Progressive Painless Vision Loss in a 64-Year-Old Man Due to Leber Hereditary Optic NeuropathyMoe H Aung, Nicholas J Volpe, Daniel J Choi, et al.
Molecular Genetics and Metabolism|February 26, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosisRory J Tinker, Marni J Falk, Amy Goldstein, et al.
Clinical Genetics|August 11, 2025
RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial MyopathyAmel Karaa, Amy Goldstein, Bruce H Cohen, et al.
Neurology|August 1, 2023
Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene DeficiencyJennifer Morganroth, Lovisa Ljungberg, Amy Goldstein, et al.
Pediatric Pulmonology|January 10, 2018
Emergency airway and ventilator procedures for community based home care staff validation of an educational programAnn Marie Ramsey, Sarah Brennan, Adam Stricker, et al.
Pageof 11