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Debra S Regier

Showing results (11-20 of 38) with videos related to

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Pediatric Endocrinology Reviews : PER|August 6, 2016
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward TherapyDebra S Regier, Richard L Proia, Alessandra D'Azzo, et al.
Pediatrics in Review|June 3, 2017
Case 5: Acute Vomiting and Hallucinations in a 5-year-old Vegan GirlLeslie Magida Farrell, Sonal Kalburgi, Michelle McGarry-Hansen, et al.
Molecular Genetics and Metabolism Reports|June 27, 2022
Maple syrup urine disease decompensation misdiagnosed as a psychotic eventTomoyasu Higashimoto, Matthew T Whitehead, Erin MacLeod, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocatesDebra S Regier, Agata Bąk, Heather Bausell, et al.
JIMD Reports|September 10, 2019
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formulaJulia A Sabatino, Danielle Starin, Shamir Tuchman, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registriesDebra S Regier, Carlos R Ferreira, Suzanne Hart, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populationsKerri Bosfield, Debra S Regier, Sarah Viall, et al.
Molecular Genetics & Genomic Medicine|July 19, 2017
Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of diseaseCarlos R Ferreira, Debra S Regier, Donald W Hadley, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15Debra S Regier, Eyby Leon, Debra R Counts, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 9, 2022
Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculumKerri Bosfield, Jessica Albert, Nancy Cheng, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Pediatric Endocrinology Reviews : PER|August 6, 2016
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward TherapyDebra S Regier, Richard L Proia, Alessandra D'Azzo, et al.
Pediatrics in Review|June 3, 2017
Case 5: Acute Vomiting and Hallucinations in a 5-year-old Vegan GirlLeslie Magida Farrell, Sonal Kalburgi, Michelle McGarry-Hansen, et al.
Molecular Genetics and Metabolism Reports|June 27, 2022
Maple syrup urine disease decompensation misdiagnosed as a psychotic eventTomoyasu Higashimoto, Matthew T Whitehead, Erin MacLeod, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocatesDebra S Regier, Agata Bąk, Heather Bausell, et al.
JIMD Reports|September 10, 2019
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formulaJulia A Sabatino, Danielle Starin, Shamir Tuchman, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registriesDebra S Regier, Carlos R Ferreira, Suzanne Hart, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populationsKerri Bosfield, Debra S Regier, Sarah Viall, et al.
Molecular Genetics & Genomic Medicine|July 19, 2017
Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of diseaseCarlos R Ferreira, Debra S Regier, Donald W Hadley, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15Debra S Regier, Eyby Leon, Debra R Counts, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 9, 2022
Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculumKerri Bosfield, Jessica Albert, Nancy Cheng, et al.
Pageof 4