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1دورية أكاديمية
المؤلفون: Cinthya Zepeda‐Mendoza, McKinsey L. Goodenberger, Ashley Kuhl, Gregory M. Rice, Nicole Hoppman
المصدر: Clinical Case Reports, Vol 7, Iss 6, Pp 1154-1160 (2019)
مصطلحات موضوعية: CHD1, chromosome microarray, copy number variant, deletion, developmental delay, haploinsufficiency, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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2دورية أكاديمية
المصدر: Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 4-7 (2016)
مصطلحات موضوعية: Propionic acidemia, Inborn errors in metabolism, Cardiomyopathy, Pregnancy, Organic acidemias, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Bridget M. Stroup, Patrice K. Held, Phillip Williams, Murray K. Clayton, Sangita G. Murali, Gregory M. Rice, Denise M. Ney
المصدر: Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 21-26 (2016)
مصطلحات موضوعية: Bland–Altman, Amino acid analyzer, Phenylalanine analytical methods, Newborn screening, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Sarah H. Elsea, Mir Reza Bekheirnia, Jaehyung Lim, Gregory M. Rice, Mary Elizabeth M. Tessier, Erica Lay, Claudia Soler-Alfonso, Fernando Scaglia, Stephen F. Kralik, Brian J. Shayota
المصدر: Journal of Child Neurology. 36:841-852
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Mitochondrial disease, Time, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Ethylmalonic encephalopathy, medicine, Humans, Child, Purpura, Acrocyanosis, business.industry, Brain, Brain Diseases, Metabolic, Inborn, Infant, Sulfur dioxygenase, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Stroke, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, ETHE1, Neurology (clinical), medicine.symptom, business, Developmental regression, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::062ed1022ed01632583d2923026c84e1
https://doi.org/10.1177/08830738211006507 -
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المؤلفون: Elizabeth R. Kellom, Kimberly E Stepien, Barry Wolf, Gregory M Rice
المصدر: Journal of Neuro-Ophthalmology. 41:e27-e30
مصطلحات موضوعية: Ophthalmology, Pediatrics, medicine.medical_specialty, Atrophy, business.industry, Biotinidase deficiency, medicine, Neurology (clinical), medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5418591a174afc9c3085494c938339fe
https://doi.org/10.1097/wno.0000000000000933 -
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المؤلفون: Gregory M. Rice, Cinthya J. Zepeda-Mendoza, Nicole L. Hoppman, Ashley Kuhl, McKinsey L. Goodenberger
المصدر: Clinical Case Reports, Vol 7, Iss 6, Pp 1154-1160 (2019)
Clinical Case Reportsمصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, Audiology, chromosome microarray, 03 medical and health sciences, Facial dysmorphism, 0302 clinical medicine, medicine, copy number variant, deletion, Copy-number variation, Craniofacial, lcsh:R5-920, business.industry, lcsh:R, CHD1, General Medicine, haploinsufficiency, developmental delay, 030220 oncology & carcinogenesis, Speech delay, medicine.symptom, lcsh:Medicine (General), Haploinsufficiency, business
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المؤلفون: Elizabeth R. Kellom, Gregory M. Rice, Kimberly E Stepien, Barry Wolf
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100696-(2021)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Weakness, Case Report, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Atrophy, Genetics, medicine, Biotinidase activity, Molecular Biology, lcsh:QH301-705.5, Exome sequencing, 0303 health sciences, lcsh:R5-920, business.industry, Biotinidase deficiency, 030305 genetics & heredity, medicine.disease, Peripheral neuropathy, lcsh:Biology (General), Differential diagnosis, medicine.symptom, business, lcsh:Medicine (General), 030217 neurology & neurosurgery
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المؤلفون: Gregory M. Rice, J. Scott McMurray, Maia N. Braden
المصدر: Multidisciplinary Management of Pediatric Voice and Swallowing Disorders ISBN: 9783030261900
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Opitz G/BBB Syndrome, medicine.disease, VACTERL association, CHARGE syndrome, Medicine, Stickler syndrome, Medical diagnosis, business, Treacher Collins syndrome, Kabuki syndrome, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2531d787595d819692d490e6aea26f68
https://doi.org/10.1007/978-3-030-26191-7_33 -
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المؤلفون: Claire Sandrock, James Deline, Nicoletta Drilias, Jessica Scott Schwoerer, Mei W. Baker, Gregory M. Rice, Ashley Kuhl, Gretchen Spicer, Christine M. Seroogy, Patrice K. Held
المصدر: Public Health Rep
مصطلحات موضوعية: Medical home, Male, medicine.medical_specialty, Carrier testing, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Wisconsin, Metabolic Diseases, Intervention (counseling), Health care, medicine, Humans, 030212 general & internal medicine, Screening procedures, 0303 health sciences, Newborn screening, business.industry, Public health, Communication, Incidence, 030305 genetics & heredity, Public Health, Environmental and Occupational Health, Infant, Newborn, Articles, Patient Acceptance of Health Care, Long-Term Care, Religion, Long-term care, Family medicine, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9190781ffa4679bc6db671cd09dc82b3
https://pubmed.ncbi.nlm.nih.gov/31682555 -
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المصدر: NeoReviews. 19:e297-e300
مصطلحات موضوعية: 0301 basic medicine, Polyhydramnios, Pregnancy, Subarachnoid hemorrhage, medicine.diagnostic_test, business.industry, Vaginal delivery, Birth trauma, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Term Infant, Anesthesia, Pediatrics, Perinatology and Child Health, medicine, Amniocentesis, Hypernatremia, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf5498ac19744caa9d5a3c3fdd0a8bf6
https://doi.org/10.1542/neo.19-5-e297