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1دورية أكاديمية
المؤلفون: Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-9 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2دورية أكاديمية
المؤلفون: Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
مصطلحات موضوعية: NGLY1 deficiency, Congenital disorder of deglycosylation, Incidence, Rare diseases, Patient registry, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard J. Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte Hobbs, Matthew N. Bainbridge
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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4دورية أكاديمية
المؤلفون: Christopher E. Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A. Lawson, Ingo Helbig, Matthew N. Bainbridge
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100823- (2023)
مصطلحات موضوعية: Clinical variant, CRISPR, STXBP1, unc-18, Variant of uncertain significance, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Aloran Mazumder, Athena Jimenez, Rachel E. Ellsworth, Stephen J. Freedland, Sophia George, Matthew N. Bainbridge, Svasti Haricharan
المصدر: Therapeutic Advances in Medical Oncology, Vol 14 (2022)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1758-8359
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المؤلفون: Matthew J. Ellis, Cynthia X. Ma, Matthew N. Bainbridge, Shyam M. Kavuri, Dean P. Edwards, Shixia Huang, Shunqiang Li, Jeremy Hoog, John A. Olson, Kelly Hunt, Vera Suman, Jonathan T. Lei, Cheryl Schmidt, Jacob Schmelz, Meenakshi Anurag, Kimberly R. Holloway, Purba Singh, Nindo Punturi, Svasti Haricharan
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05970a01cada46f0846e2266df7f4d18
https://doi.org/10.1158/2159-8290.22531617.v1 -
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9
المؤلفون: Aloran Mazumder, Athena Jimenez, Rachel E Ellsworth, Sophia George, Stephen J Freedland, Matthew N Bainbridge, Svasti Haricharan
المصدر: Cancer Research. 82:P3-14
مصطلحات موضوعية: Cancer Research, Oncology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1557dec368a86dea71097550ed2f5cd8
https://doi.org/10.1158/1538-7445.sabcs21-p3-14-03 -
10دورية أكاديمية
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 32 (2020)
مصطلحات موضوعية: newborn screening, lysosomal storage diseases, variant cut-off, next generation sequencing, diagnosis, dried blood spots, Pediatrics, RJ1-570
وصف الملف: electronic resource