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Georgianne Arnold

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Journal for Specialists in Pediatric Nursing : JSPN|September 21, 2020
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitionersTracy B Lowe, Jane DeLuca, Georgianne Arnold
Genetic Testing|October 18, 2005
Cystic fibrosis newborn screening: a pilot study to maximize carrier screeningErin Lagoe, Sandra Labella, Georgianne Arnold, et al.
American Journal of Medical Genetics. Part A|July 31, 2014
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidismHenry J Mroczkowski, Georgianne Arnold, Francis X Schneck, et al.
Molecular Genetics and Metabolism|November 2, 2005
Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defectPhyllis B Acosta, Steven Yannicelli, Alan S Ryan, et al.
Journal of Inherited Metabolic Disease|April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathyMelanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Ophthalmic Genetics|January 30, 2024
A proposal for an updated staging system for LCHADD retinopathyNida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.
Molecular Genetics and Metabolism|July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiencyShawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.
Human Mutation|June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York StateMelissa P Wasserstein, Mary Andriola, Georgianne Arnold, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Journal for Specialists in Pediatric Nursing : JSPN|September 21, 2020
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitionersTracy B Lowe, Jane DeLuca, Georgianne Arnold
Genetic Testing|October 18, 2005
Cystic fibrosis newborn screening: a pilot study to maximize carrier screeningErin Lagoe, Sandra Labella, Georgianne Arnold, et al.
American Journal of Medical Genetics. Part A|July 31, 2014
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidismHenry J Mroczkowski, Georgianne Arnold, Francis X Schneck, et al.
Molecular Genetics and Metabolism|November 2, 2005
Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defectPhyllis B Acosta, Steven Yannicelli, Alan S Ryan, et al.
Journal of Inherited Metabolic Disease|April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathyMelanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Ophthalmic Genetics|January 30, 2024
A proposal for an updated staging system for LCHADD retinopathyNida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.
Molecular Genetics and Metabolism|July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiencyShawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.
Human Mutation|June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York StateMelissa P Wasserstein, Mary Andriola, Georgianne Arnold, et al.
Pageof 1