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1دورية أكاديمية
المؤلفون: Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry, Georgianne L. Arnold
المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100884- (2022)
مصطلحات موضوعية: Inborn errors of metabolism, Genetics, Pediatrics, Fatty acid oxidation disorders, LCHAD, TFP, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kevin Wilhelm, Mathew J. Edick, Susan A. Berry, Michael Hartnett, Amy Brower
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: newborn screening, longitudinal data, inborn errors of metabolism, newborn screening translational research network (NBSTRN), longitudinal pediatric data resource (LPDR), clinvar, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava
المصدر: JIMD Reports, Vol 54, Iss 1, Pp 16-21 (2020)
مصطلحات موضوعية: CDG, chromosome 16, congenital disorders of glycosylation, homozygosity, PMM2‐CDG, uniparental isodisomy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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4دورية أكاديمية
المؤلفون: Elizabeth I. Pierpont, Rebekah L. Hudock, Allison M. Foy, Margaret Semrud-Clikeman, Mary Ella Pierpont, Susan A. Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer, Christopher L. Moertel
المصدر: Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: RASopathies, Noonan syndrome, Neurofibromatosis type 1, NF1, Social, Neuropsychological, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Ross J. Porter, Graeme I. Murray, Sandra Hapca, Andrew Hay, Stephanie G. Craig, Matthew P. Humphries, Jacqueline A. James, Manuel Salto-Tellez, Daniel P. Brice, Susan H. Berry, Mairi H. McLean
المصدر: Cancers, Vol 15, Iss 6, p 1865 (2023)
مصطلحات موضوعية: HMGB1, colorectal cancer, mismatch repair, lymphocytes, cytokine, therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Jason S. Holsapple, Ben Cooper, Susan H. Berry, Aleksandra Staniszewska, Bruce M. Dickson, Julie A. Taylor, Paul Bachoo, Heather M. Wilson
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 15, p 7844 (2021)
مصطلحات موضوعية: macrophage, chronic wounds, healing, shockwave therapy, phagocytosis, cytokine, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7
المصدر: American Journal of Medical Genetics Part A. 188:1239-1244
مصطلحات موضوعية: Genetics, Genetics (clinical)
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8
المؤلفون: Marilyn J, Bull, Tracy, Trotter, Stephanie L, Santoro, Celanie, Christensen, Randall W, Grout, Leah W, Burke, Susan A, Berry, Timothy A, Geleske, Ingrid, Holm, Robert J, Hopkin, Wendy J, Introne, Michael J, Lyons, Danielle C, Monteil, Angela, Scheuerle, Joan M, Stoler, Samantha A, Vergano, Emily, Chen, Rizwan, Hamid, Stephen M, Downs, Christopher, Cunniff, Melissa A, Parisi, Steven J, Ralston, Joan A, Scott, Stuart K, Shapira, Paul, Spire
المصدر: Pediatrics. 149(5)
مصطلحات موضوعية: Adolescent, Pediatrics, Perinatology and Child Health, Humans, Health Promotion, Down Syndrome, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaeebd4854e6ef92ead5ef5a0b8e5422
https://pubmed.ncbi.nlm.nih.gov/35490285 -
9
المصدر: American Journal of Medical Genetics Part A. 185:1247-1250
مصطلحات موضوعية: medicine.medical_specialty, biology, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Homocystinuria, Disease, Liver transplantation, medicine.disease, Gastroenterology, Cystathionine beta synthase, Primary hyperoxaluria, Internal medicine, Genetics, medicine, biology.protein, Kidney stones, business, Genetics (clinical), Genetic testing, Kidney disease
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10
المؤلفون: Shawn E. McCandless, Allison A. Bannick, Roberto T. Zori, Uta Lichter-Konecki, Nicola Longo, Michal Inbar-Feigenberg, Thomas Vescio, Nicholas Ah Mew, Teresa Kok, Marty Porter, Colleen Canavan, Andreas Schulze, George A. Diaz, Susan A. Berry, Bryan E. Hainline, Robert L. Conway
المصدر: Molecular genetics and metabolism
مصطلحات موضوعية: Glycerol, Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030105 genetics & heredity, Pediatrics, Biochemistry, Gastroenterology, chemistry.chemical_compound, Neonate, 0302 clinical medicine, Endocrinology, Hyperammonemia, Glycerol phenylbutyrate, Age of Onset, Urea Cycle Disorders, Inborn, Phenylacetates, Pediatric, education.field_of_study, Phenylbutyrates, Child, Preschool, Urea cycle, Female, Hemodialysis, medicine.medical_specialty, Urea cycle disorder, Population, Neonatal onset, Article, 03 medical and health sciences, Pharmacokinetics, Ammonia, Renal Dialysis, Internal medicine, Genetics, medicine, Humans, education, Molecular Biology, business.industry, Infant, Newborn, Infant, medicine.disease, chemistry, business, 030217 neurology & neurosurgery