نتائج البحث - Hitesh Shah
- يعرض 1 - 6 نتائج من 6
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Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly حسب Eva Klopocki, Christian M. Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, R. Bald, Regina Besoke, Karsten R. Held, Stefan Mundlos, Ingo Kurth
منشور في 2012Artigo -
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Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis حسب Sarah B. Daly, Hitesh Shah, James O’Sullivan, Beverley Anderson, Sanjeev S. Bhaskar, Simon Williams, Nada Al-Sheqaih, Abdul Mueed Bidchol, Siddharth Banka, William G. Newman, Katta M. Girisha
منشور في 2014Artigo -
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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency حسب Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher, Gandham SriLakshmi Bhavani, Geert‐Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric M. Vaz, Susanne Gerit Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M. Girisha, Barbara Plecko
منشور في 2021Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Biology
Gene
Anatomy
Genetics
Internal medicine
Surgery
Amputation
Ankle
Arthrogryposis
Arylsulfatase A
Biochemistry
Chemistry
Clubfoot
Congenital disease
Deformity
Dermatan sulfate
Disease
Dysostosis
Enzyme
Epidemiology
Exome
Exome sequencing
Femoral head
Fibula
Glycosaminoglycan
Heparan sulfate
Homeobox
Incidence (geometry)
Intensive care medicine