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个人简介
SLFN14 mutations causing an inherited bleeding disorder with thrombocytopenia and platelet secretion defects
TRAC mutations causing a novel immunodeficiency disorder
SLC29A3 mutations causing familial Faisalabad histiocytosis/Rosai-Dorfman disease
BLOC1S3 mutations causing a novel form of Hermansky Pudlak disorder (HPS8)
CHRNG, RAPSN and DOK7 mutations causing multiple pterygia syndrome/foetal akinesia deformation sequence
PLA2G6 mutations causing a spectrum of childhood onset neurodegenerative disorders associated with brain iron accumulation
TRAC mutations causing a novel immunodeficiency disorder
SLC29A3 mutations causing familial Faisalabad histiocytosis/Rosai-Dorfman disease
BLOC1S3 mutations causing a novel form of Hermansky Pudlak disorder (HPS8)
CHRNG, RAPSN and DOK7 mutations causing multiple pterygia syndrome/foetal akinesia deformation sequence
PLA2G6 mutations causing a spectrum of childhood onset neurodegenerative disorders associated with brain iron accumulation
研究兴趣
论文共 186 篇作者统计合作学者相似作者
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Samantha J Montague,Joshua Price, Katherine Pennycott, Natasha J Pavey,Eleyna M Martin, Isaac Thirlwell,Samuel Kemble, Catarina Monteiro, Lily Redmond-Motteram, Natalie Lawson, Katherine Reynolds,Carl Fratter,
Journal of thrombosis and haemostasis : JTH (2024)
Journal of thrombosis and haemostasis : JTHno. 4 (2023): 1067-1067
Blood Advancesno. 20 (2023): 6092-6107
Maria N Barrachina,Gerard Pernes,Isabelle C Becker,Isabelle Allaeys,Thomas I. Hirsch,Dafna J Groeneveld,Abdullah O. Khan, Daniela Freire,Karen Guo,Estelle Carminita,Pooranee K Morgan, Thomas J Collins,
Frontiers in cardiovascular medicine (2023): 1282147
Justyne E Ross,Shruthi Mohan, Jing Zhang,Mia J Sullivan,Loredana Bury,Kristy Lee, Isabella Futchi, Annabelle Frantz, Dara McDougal,Juliana Perez Botero,Marco Cattaneo,Nichola Cooper,
Joanne Lacey,Simon J. Webster, Paul R. Heath,Chris J. Hill, Lucinda Nicholson-Goult,Bart E. Wagner,Abdullah O. Khan,Neil Morgan,Michael Makris,Martina E. Daly
Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows,Kate Downes,Kathleen Freson,Joanne Mason,Paula Page, Kim Reay,Bethan Myers,Neil V Morgan
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