OpenURL Connection Search

Select item for more details and to access through your institution.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2793, doi. 10.1002/ajmg.a.36735
By:
- Bidchol, Abdul Mueed;
- Dalal, Ashwin;
- Shah, Hitesh;
- S, Suryanarayana;
- Nampoothiri, Sheela;
- Kabra, Madhulika;
- Gupta, Neerja;
- Danda, Sumita;
- Gowrishankar, Kalpana;
- Phadke, Shubha R.;
- Kapoor, Seema;
- Kamate, Mahesh;
- Verma, I.C.;
- Puri, Ratna Dua;
- Sankar, V.H.;
- Devi, A. Radha Rama;
- Patil, S.J.;
- Ranganath, Prajnya;
- Jain, S. Jamal Md Nurul;
- Agarwal, Meenal
Publication type:
Article
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 898, doi. 10.1002/ajmg.a.36367
By:
- Girisha, Katta M.;
- Bidchol, Abdul Mueed;
- Kamath, Preeti S.;
- Shah, Krupa H.;
- Mortier, Geert R.;
- Mundlos, Stefan;
- Shah, Hitesh
Publication type:
Article
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620
By:
- Dalal, Ashwin;
- Bhavani G, Sri Lakshmi;
- Togarrati, Padma Priya;
- Bierhals, Tatjana;
- Nandineni, Madhusudan R.;
- Danda, Sumita;
- Danda, Debashish;
- Shah, Hitesh;
- Vijayan, Sandeep;
- Gowrishankar, Kalpana;
- Phadke, Shubha R;
- Bidchol, Abdul Mueed;
- Rao, Anand Prahalad;
- Nampoothiri, Sheela;
- Kutsche, Kerstin;
- Girisha, K.M.
Publication type:
Article
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0290-6
By:
- Girisha, Katta Mohan;
- Bidchol, Abdul Mueed;
- Graul-Neumann, Luitgard;
- Gupta, Ashish;
- Hehr, Ute;
- Lessel, Davor;
- Nader, Sean;
- Shah, Hitesh;
- Wickert, Julia;
- Kutsche, Kerstin
Publication type:
Article
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
Published in:
Molecular Syndromology, 2014, v. 5, n. 5, p. 218, doi. 10.1159/000365057
By:
- Daly, Sarah B.;
- Shah, Hitesh;
- O'Sullivan, James;
- Anderson, Beverley;
- Bhaskar, Sanjeev;
- Williams, Simon;
- Al-Sheqaih, Nada;
- Mueed Bidchol, Abdul;
- Banka, Siddharth;
- Newman, William G.;
- Girisha, Katta M.
Publication type:
Article

Found: 5

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.