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1دورية أكاديمية
المؤلفون: Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton
المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101084- (2024)
مصطلحات موضوعية: Pegvaliase, PEGylated phenylalanine ammonia lyase, Phenylalanine, Phenylketonuria, PRISM, Recombinant Anabaena variabilis, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000375Test; https://doaj.org/toc/2214-4269Test
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2دورية أكاديمية
المؤلفون: Hongyu Luo, Linjiang Lao, Kit Sing Au, Hope Northrup, Xiao He, Diane Forget, Marie-Soleil Gauthier, Benoit Coulombe, Isabelle Bourdeau, Wei Shi, Lucia Gagliardi, Maria Candida Barisson Villares Fragoso, Junzheng Peng, Jiangping Wu
المصدر: Genome Biology, Vol 25, Iss 1, Pp 1-42 (2024)
مصطلحات موضوعية: ARMC5, Neural tube defects, Myelomeningocele, Ubiquitin ligase specific for all Pol II subunits, Pol II pool size, FOLH1, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1474-760XTest
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3دورية أكاديمية
المؤلفون: Shelby L. Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L. Brown, David Rodriguez‐Buritica, Laura S. Farach
المصدر: JIMD Reports, Vol 64, Iss 6, Pp 434-439 (2023)
مصطلحات موضوعية: arginase deficiency, ARG1‐D, urea cycle disorders, cerebral palsy, coagulopathy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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4دورية أكاديمية
المؤلفون: Kate Richardson, Hope Northrup
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101333- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424004795Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Kate Richardson, Hope Northrup, S. Nicholas Russo, John Giang, Jenny Do
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100306- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423003060Test; https://doaj.org/toc/2949-7744Test
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6دورية أكاديمية
المؤلفون: Kathleen Shields, Hope Northrup
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100332- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423003321Test; https://doaj.org/toc/2949-7744Test
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7دورية أكاديمية
المؤلفون: Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
مصطلحات موضوعية: microdeletion, Nance‐Horan syndrome, NHS, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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8دورية أكاديمية
المصدر: Frontiers in Reproductive Health, Vol 4 (2022)
مصطلحات موضوعية: menstrual irregularity, tuberous sclerosis complex, mTOR dysregulation, mTOR inhibitors, reproductive health, Reproduction, QH471-489, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/frph.2022.798983/fullTest; https://doaj.org/toc/2673-3153Test
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9دورية أكاديمية
المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
المصدر: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
مصطلحات موضوعية: genotype-phenotype correlation, skeletal dysplasia, HPO terms, quantitative phenotyping cluster heatmap, molecular diagnosis, traits and OMIM clinical synopsis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000555Test; https://doaj.org/toc/2666-2477Test
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10
المؤلفون: Alexis Levine, Peter Davis, Bo Zhang, Jurriaan Peters, Rajna Filip-Dhima, Simon K. Warfield, Anna Prohl, Jamie Capal, Darcy Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Mustafa Sahin
المصدر: Pediatric Neurology. 144:26-32
مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::57c5043ca6fb69b72c2fd1c64c613b17Test
https://doi.org/10.1016/j.pediatrneurol.2023.03.015Test