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个人简介
The laboratory receives samples from >100 countries throughout the world and is acclaimed for both its research into monogenic disorders and the translation of its research discoveries into diagnostic service. The Exeter Genomics Laboratory is the national provider for the award-winning Rapid Genome Sequencing service for acutely ill babies and children; the first commissioned test for the new NHS Genomic Medicine Service in England. Sian was awarded an OBE in 2018 for services to patient care. She has continued to pursue her research and clinical service implementation work on a part-time basis since May 2021.
研究兴趣
论文共 995 篇作者统计合作学者相似作者
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 284-285
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Huseyin Demirbilek, M. Nuri Ozbek,Melek Yildiz, Jayne L. A. Houghton,Hasan Onal,Fatih Gurbuz,Semra Cetinkaya,Atilla Cayir, Yasemin Denkboy-Ongen,Mesut Parlak,Busra Gurpinar Tosun,Ibrahim Mert Erbas,
HORMONE RESEARCH IN PAEDIATRICS (2023): 589-589
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Wakeling Mn, Owens Ndl, Hopkinson JR,Johnson Mb, Houghton Jal,Antonia Dastamani, Flaxman CS, Wyatt RC, Hewat TI,Hopkins JJ,Laver Tw,van Heugten R,
Yearbook of pediatric endocrinology (2023)
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Anne Guimier,Loic de Pontual, Stephen R. Braddock,Erin Torti,Luis A. Perez-Jurado, Patricia Munoz-Cabello,Montserrat Arumi,Kristin G. Monaghan,Hane Lee, Lee-kai Wang,Ilina D. Pluym,Sally Ann Lynch,
Athina Ververi,Sara Zagaglia,Lara Menzies,Julia Baptista,Richard Caswell,Stephanie Baulac,Sian Ellard,Sally Lynch,Thomas S. Jacques, Maninder Singh Chawla, Martin Heier,Mari Ann Kulseth,
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