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个人简介
The pivot point in my career was the following 3 years at the National Institute of Dental Research, NIH, in George Martin’s laboratory. This introduced me to collagens, previously the most boring proteins in the world, convinced me of their dynamic nature and as a resource for understanding the genetics of rare disorders and as a window to fundamental biology. Then a 3 year combined fellowship in biochemistry (Paul Bornstein) and Medical Genetics (Arno Motulsky) put collagen biology into a clinical context and led by Arno’s maxim to “think genetically” laid the foundation for the next 40+ years of working with families with heritable connective tissue disorders (EDS, OI, Marfan syndrome) and the identification of the underlying genetic bases of these conditions.
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论文共 270 篇作者统计合作学者相似作者
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Judy Savige,Helen Storey,Elizabeth Watson,Jens Michael Hertz,Constantinos Deltas,Alessandra Renieri,Francesca Mari,Pascale Hilbert,Pavlina Plevova,Peter Byers, Agne Cerkauskaite, Martin Gregory,
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 132-132
Journal of Vascular Surgeryno. 1 (2023): NP210-NP210
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Journal of vascular surgery cases and innovative techniquesno. 2 (2023): 101194-101194
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Journal of Vascular Surgery Cases, Innovations and Techniquesno. 2 (2023): 101192-101192
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Sara B. Stephens,Sherene Shalhub,Nicholas Dodd, Jesse Li, Michael Huang,Seitaro Oda,Kalyan Kancherla,Tam T. Doan,Siddharth K. Prakash,Justin D. Weigand,Federico M. Asch, Taylor Beecroft,
JOURNAL OF THE AMERICAN HEART ASSOCIATIONno. 19 (2023): e029518-e029518
Malia McAvoy,Yigit Karasozen,Carolina Parada,Tina Busald,Joshua W. Osbun,Jacob J. Ruzevick,Samuel Emerson,Dominic A. Nistal, Evgeniya Tyrtova, Jessica C. Eaton,Shreya Swaminathan,Michael R. Levitt,
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