Beat Steinmann - Division of Metabolism, Department of Pediatrics, University of Zurich, Switzerland

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论文共 491 篇作者统计合作学者相似作者

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In memoriam Claude Bachmann 1941-2022

Mark L. Batshaw,Olivier Braissant, Carlo Dionisi Vici,Beat Steinmann,Andrea Superti-Furga

Schweizerische Ärztezeitung (2022)

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Arash Najafi, Sylvan M Caspar,Janine Meienberg,Marianne Rohrbach,Beat Steinmann, Gabor Matyas

CLINICAL GENETICS（2020）

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Hereditäre Bindegewebskrankheiten

Beat Steinmann, Marianne Rohrbach, Gabor Matyas

PädiatrieSpringer Reference Medizinpp.2835-2859, (2020)

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Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome

Nicolo Dubacher, Justyna Münger, Maria C Gorosabel, Jessica Crabb,Agnieszka A Ksiazek, Sylvan M Caspar,Erik N T P Bakker,Ed van Bavel,Urs Ziegler,Thierry Carrel,Beat Steinmann,Steffen Zeisberger,

CARDIOVASCULAR RESEARCH（2020）

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Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan

Maya Zahid,Aysha Habib Khan,Zabedah Md Yunus, Bee Chin Chen,Beat Steinmann,Haberle Johannes,Bushra Afroze

JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION（2019）

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Novel approach reveals celiprolol but not losartan as medical therapy for vascular Ehlers-Danlos syndrome

N. Dubacher, J. Munger, M. C. Gorosabel,J. Crabb, A. A. Ksiazek, S. M. Caspar,E. N. T. P. Bakker,E. van Bavel,U. Ziegler,T. Carrel,B. Steinmann,S. Zeisberger,

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

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The first report of a severe classical Ehlers-Danlos syndrome phenotype in two siblings, caused by a homozygous hypomorphic COL5A1 mutation

D. S. Johnson, J. M. Bowen, E. Kinning,J. Walsh,B. E. Wagner,R. C. Pollitt,C. Giunta,B. Steinmann

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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1. Das Ehlers-Danlos-Syndrom: Klinik ‒ Einteilung ‒ Pathogenese ‒ Genetik

Beat Steinmann

Das Ehlers-Danlos-Syndrompp.1-30, (2017)

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Martina Huemer, Regina Mulderbleile,Patricie Burda,D Sean Froese,Terttu Suormala,Bruria Ben Zeev,Patrick F Chinnery,Carlo Dionisivici,Dries Dobbelaere,Gulden Gokcay,Mubeccel Demirkol,Johannes Haberle,

Journal of inherited metabolic disease（2016）

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The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Andreas R Janecke,Ben Li,Manfred Boehm,Birgit Krabichler,Marianne Rohrbach,Thomas Muller,Irene Fuchs,Gretchen Golas,Yasuhiro Katagiri,Shira G Ziegler,William A Gahl,Yael Wilnai,

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2016）

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