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1دورية أكاديمية
المؤلفون: Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101110- (2024)
مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Pegvaliase, Pre-analytical error, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000636Test; https://doaj.org/toc/2214-4269Test
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2دورية أكاديمية
المؤلفون: Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100880- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424000268Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Kyle Salsbery, Devin Oglesbee, Elizabeth Selner, Angela Pickart, Zhiyv Niu, Emily Lauer, Dawn Peck
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101531- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006770Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100004- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000043Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100028- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000286Test; https://doaj.org/toc/2949-7744Test
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6دورية أكاديمية
المؤلفون: Kristina Aldridge, Kimberly K. Cole, Amanda J. Moffitt Gunn, Dawn Peck, Desirée A. White, Shawn E. Christ
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100647- (2020)
مصطلحات موضوعية: Phenylketonuria, Magnetic resonance imaging, Cerebellum, Gray matter, White matter, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920300938Test; https://doaj.org/toc/2214-4269Test
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7دورية أكاديمية
المصدر: Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 28-32 (2016)
مصطلحات موضوعية: Leigh syndrome, ATP6A, T9176C, Autoimmune encephalitis, Plasmapheresis, Intravenous immunoglobulin, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S221442691630043XTest; https://doaj.org/toc/2214-4269Test
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8دورية أكاديمية
المؤلفون: Miguel Chuquilin, M.D., Raghav Govindarajan, M.D., Dawn Peck, M.S., Esperanza Font Montgomery, M.D.
المصدر: Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 85-86 (2016)
مصطلحات موضوعية: Leigh syndrome, ATP6A, T9176C, Autoimmune encephalitis, Plasmapheresis, Intravenous immunoglobulin, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426916300623Test; https://doaj.org/toc/2214-4269Test
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9
المؤلفون: Gisele Pino, Dawn Peck, April Studinski, Amy White, Dimitar Gavrilov, Devin Oglesbee, Silvia Tortorelli, Patricia Hall, Matthew Schultz, Dietrich Matern
المصدر: Molecular Genetics and Metabolism. 138:107469
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::327f56594347558d3838ff80669cba21Test
https://doi.org/10.1016/j.ymgme.2023.107469Test -
10
المؤلفون: Joanne Kurtzberg, Vinod K. Prasad, Adam J. Guenzel, Coleman T. Turgeon, Joan E. Pellegrino, Gisele Pino, Kimiyo Raymond, Amy L. White, Maria L. Escolar, Rachel Hickey, Devin Oglesbee, Dawn Peck, Piero Rinaldo, Ai Sakonju, Margie A. Ream, Silvia Tortorelli, Joseph J. Orsini, Natalie M. Shallow, April Studinski, Michael H. Gelb, Dimitar Gavrilov, Kim K. Nickander, Maria Laura Duque Lasio, Dietrich Matern
المصدر: Genetics in Medicine. 22:1108-1118
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, business.industry, Galactocerebrosidase, Infant, Newborn, Psychosine, Disease, 030105 genetics & heredity, medicine.disease, Leukodystrophy, Globoid Cell, Dried blood spot, 03 medical and health sciences, Neonatal Screening, 030104 developmental biology, Pseudodeficiency alleles, Immunology, Krabbe disease, Humans, Medicine, Biomarker (medicine), Dried Blood Spot Testing, business, Genetics (clinical), Galactosylceramidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47210c51ffe5b05fc9c0888ea3c4791Test
https://doi.org/10.1038/s41436-020-0764-yTest