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1دورية أكاديمية
المؤلفون: Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, Melissa Hill
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: prenatal exome sequencing, prenatal diagnosis, genomic sequencing, healthcare professionals, genetic services, service evaluation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1401705/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
المصدر: Case Reports in Genetics, Vol 2024 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-6552Test
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3دورية أكاديمية
المؤلفون: Seong Keat Cheah, Chad Ramese Bisambar, Deborah Pitfield, Olivier Giger, Rogier ten Hoopen, Jose-Ezequiel Martin, Graeme R Clark, Soo-Mi Park, Craig Parkinson, Benjamin G Challis, Ruth T Casey
المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM20-0196.xmlTest; https://doaj.org/toc/2052-0573Test
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4دورية أكاديمية
المؤلفون: Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond
المصدر: HGG Advances, Vol 3, Iss 3, Pp 100113- (2022)
مصطلحات موضوعية: genomics, rapid diagnostic whole genome, rare disease, paediatrics, mendelian disorders, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S266624772200029XTest; https://doaj.org/toc/2666-2477Test
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5دورية أكاديمية
المؤلفون: Satyanarayana V Sagi, Hareesh Joshi, Jamie Trotman, Terence Elsey, Ashwini Swamy, Jeyanthy Rajkanna, Nazir A Bhat, Firas J S Haddadin, Samson O Oyibo, Soo-Mi Park
المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM20-0084.xmlTest; https://doaj.org/toc/2052-0573Test
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6دورية أكاديمية
المؤلفون: Satyanarayana V Sagi, Hareesh Joshi, Emily Whiles, Mondy Hikmat, Vijith R Puthi, Jane MacDougall, Sarah L Spiden, Gavin Fuller, Soo-Mi Park, Samson O Oyibo
المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2020)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM19-0145.xmlTest; https://doaj.org/toc/2052-0573Test
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7دورية أكاديمية
المؤلفون: Ruth T. Casey, Rogier ten Hoopen, Eguzkine Ochoa, Benjamin G. Challis, James Whitworth, Philip S. Smith, Jose Ezequiel Martin, Graeme R. Clark, Fay Rodger, Mel Maranian, Kieren Allinson, Basetti Madhu, Thomas Roberts, Luis Campos, Joanne Anstee, Soo-Mi Park, Alison Marker, Colin Watts, Venkata R. Bulusu, Olivier T. Giger, Eamonn R. Maher
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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8دورية أكاديمية
المؤلفون: Aisling McCarthy, Sophie Howarth, Serena Khoo, Julia Hale, Sue Oddy, David Halsall, Brian Fish, Sashi Mariathasan, Katrina Andrews, Samson O Oyibo, Manjula Samyraju, Katarzyna Gajewska-Knapik, Soo-Mi Park, Diana Wood, Carla Moran, Ruth T Casey
المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2019)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM19-0039.xmlTest; https://doaj.org/toc/2052-0573Test
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9دورية أكاديمية
المؤلفون: Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: TCF20, 22q13, Neurodevelopmental disorders, Smith–Magenis syndrome, Haploinsufficiency, Loss-of-function variants, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-019-0623-0Test; https://doaj.org/toc/1756-994XTest
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10دورية أكاديمية
المؤلفون: Jennifer Hague, Ruth Casey, Jonathan Bruty, Tom Legerton, Stephen Abbs, Susan Oddy, Andrew S Powlson, Mohamed Majeed, Mark Gurnell, Soo-Mi Park, Helen Simpson
المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-17-0139Test; https://doaj.org/toc/2052-0573Test