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1دورية أكاديمية
المؤلفون: Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, J. rgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta
المصدر: Posset , R , Garbade , S F , Gleich , F , Scharre , S , Okun , J R G , Gropman , A L , Nagamani , S C S , Druck , A-C , Epp , F , Hoffmann , G F , Kölker , S , Zielonka , M , Mew , N A , Seminara , J , Burrage , L C , Berry , G T , Breilyn , M , Schulze , A , Harding , C O , Berry , S A , Wong , D , McCandless , S ....
الإتاحة: https://doi.org/10.1016/j.gim.2023.101039Test
https://research.vumc.nl/en/publications/d702feaf-b910-41a7-a4bd-a0bfa07d75a2Test
http://www.scopus.com/inward/record.url?scp=85185265325&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Shane‐Carson, Kate P., Stone, Loan, Justice, Kaitlin, Mwanda, Shannah, Stagg, Amy, Pilditch, Jane, Hiner, Sally, Schwoerer, Jessica Scott, Berry, Susan A., Edick, Mathew J.
المساهمون: Health Resources and Services Administration
المصدر: Journal of Genetic Counseling ; volume 33, issue 1, page 86-102 ; ISSN 1059-7700 1573-3599
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3دورية أكاديمية
المؤلفون: McEwan, Andrew R., Hing, Benjamin, Erickson, Johanna C., Hutchings, Greg, Urama, Charity, Norton-Hughes, Emily, D’Ippolito, Mariam, Berry, Susan, Delibegovic, Mirela, Grassmann, Felix, MacKenzie, Alasdair
المساهمون: RCUK | Biotechnology and Biological Sciences Research Council, Medical Research Scotland
المصدر: Molecular Psychiatry ; ISSN 1359-4184 1476-5578
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Psychiatry and Mental health, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41380-023-02359-7Test
https://www.nature.com/articles/s41380-023-02359-7.pdfTest
https://www.nature.com/articles/s41380-023-02359-7Test -
4دورية أكاديمية
المؤلفون: Richmond, Nicole E., Tran, Tri, Berry, Susan
المصدر: Richmond, Nicole E. and Tran, Tri and Berry, Susan (2011) Can the Medical Home Eliminate Racial and Ethnic Disparities for Transition Services Among Youth with Special Health Care Needs? Maternal and Child Health Journal. ISSN 1092-7875 (In Press)
العلاقة: http://health-equity.pitt.edu/3296Test/
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5دورية أكاديمية
المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri
المصدر: Journal of Inherited Metabolic Disease. 42(1)
مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5h73x4jbTest
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6دورية أكاديمية
المؤلفون: Porter, Ross J., Murray, Graeme I., Hapca, Sandra, Hay, Andrew, Craig, Stephanie G., Humphries, Matthew P., James, Jacqueline A., Salto-Tellez, Manuel, Brice, Daniel P., Berry, Susan H., McLean, Mairi H.
المصدر: Porter , R J , Murray , G I , Hapca , S , Hay , A , Craig , S G , Humphries , M P , James , J A , Salto-Tellez , M , Brice , D P , Berry , S H & McLean , M H 2023 , ' Subcellular Epithelial HMGB1 Expression Is Associated with Colorectal Neoplastic Progression, Male Sex, Mismatch Repair Protein Expression, Lymph Node Positivity, and an ‘Immune Cold’ Phenotype Associated with Poor Survival ' , Cancers , vol. 15 , no. 6 , 1865 . https://doi.org/10.3390/cancers15061865Test
الإتاحة: https://doi.org/10.3390/cancers15061865Test
https://research.manchester.ac.uk/en/publications/de40cc88-437e-46f8-8dfe-25010ce29e2fTest -
7دورية أكاديميةBiallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
المؤلفون: Ng, Bobby G, Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N, Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B, AlAsmari, Ali, Suchy, Sharon F, Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A, Kronn, David F, Freeze, Hudson H
المصدر: American Journal of Human Genetics. 102(1)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Genetics, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Alleles, Alternative Splicing, Cells, Cultured, Child, Child, Preschool, Fatal Outcome, Female, Fibroblasts, Fucose, Fucosyltransferases, Glycosylation, Humans, Lectins, Male, Mutation, Polysaccharides, RNA, Messenger, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4sd9j38bTest
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8دورية أكاديمية
المؤلفون: McNutt, Markey, Vockley, Jerry, Zori, Roberto, Basel, Donald, Breilyn, Margo, Longo, Nicola, Sutton, Vernon, Berry, Susan, Chivukula, Pad, Crowley, Constance, Geller, David
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108161 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108161Test
https://api.elsevier.com/content/article/PII:S1096719224000465?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224000465?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: McQueen, Kelsey, Jurecki, Elaina, Berry, Susan
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108308 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108308Test
https://api.elsevier.com/content/article/PII:S1096719224001938?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224001938?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Sen, Kuntal, Izem, Rima, Long, Yuelin, Jiang, Jiji, Konczal, Laura L., McCarter, Robert J., Mew, Nicholas Ah, Baumgartner, Matthias R., Berry, Gerard, Berry, Susan A., Burgard, Peter, Burrage, Lindsay C., Cederbaum, Stephen, Coughlin, Curtis, Diaz, George A., Enns, Gregory, Gallagher, Renata C., Harding, Cary O., Hoffmann, Georg F., Le Mons, Cynthia
المصدر: Molecular Genetics & Genomic Medicine; Apr2024, Vol. 12 Issue 4, p1-13, 13p
مصطلحات موضوعية: DATABASES, SLEEP, DISEASE risk factors, NATURAL history, LONGITUDINAL method