检索结果 - Hitesh Shah
- Showing 1 - 6 results of 6
-
1
-
2
-
3
-
4
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly 由 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
出版 2012Artigo -
5
Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis 由 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
出版 2014Artigo -
6
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency 由 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
出版 2021Artigo
相关主题
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