Verma IC - Search Results

1

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Aldahmesh MA, et al. Among authors: verma ic. Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17. Am J Hum Genet. 2011. PMID: 22100072 Free PMC article.

2

Dysmorphology diagnosis.

Puri RD, Verma IC. Puri RD, et al. Among authors: verma ic. Indian J Pediatr. 2004 Jun;71(6):535-9. doi: 10.1007/BF02724297. Indian J Pediatr. 2004. PMID: 15226565

3

Tyrosinemia type I--diagnostic issues and prenatal diagnosis.

Bijarnia S, Puri RD, Ruel J, Gray GF, Jenkinson L, Verma IC. Bijarnia S, et al. Among authors: verma ic. Indian J Pediatr. 2006 Feb;73(2):163-5. doi: 10.1007/BF02820214. Indian J Pediatr. 2006. PMID: 16514230

4

Spectrum of severe skeletal dysplasias in North India.

Puri RD, Thakur S, Verma IC. Puri RD, et al. Among authors: verma ic. Indian J Pediatr. 2007 Nov;74(11):995-1002. doi: 10.1007/s12098-007-0183-y. Indian J Pediatr. 2007. PMID: 18057679

5

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.

Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N. Phadke SR, et al. Among authors: verma ic. J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717. J Appl Genet. 2010. PMID: 20145307

6

Mutation studies in X-linked myotubular myopathy in three Indian families.

Bijarnia S, Puri RD, Jain M, Kler N, Roy S, Urtizberea JA, Biancalana V, Verma IC. Bijarnia S, et al. Among authors: verma ic. Indian J Pediatr. 2010 Apr;77(4):431-3. doi: 10.1007/s12098-010-0057-6. Epub 2010 Mar 31. Indian J Pediatr. 2010. PMID: 20358311

7

Utility of molecular studies in incontinentia pigmenti patients.

Thakur S, Puri RD, Kohli S, Saxena R, Verma IC. Thakur S, et al. Among authors: verma ic. Indian J Med Res. 2011 Apr;133(4):442-5. Indian J Med Res. 2011. PMID: 21537100 Free PMC article.

8

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: verma ic. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146

9

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Nahar R, Puri RD, Saxena R, Verma IC. Nahar R, et al. Among authors: verma ic. Am J Med Genet A. 2013 Jan;161A(1):76-81. doi: 10.1002/ajmg.a.35692. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208825

10

Trichohepatoenteric syndrome: founder mutation in asian indians.

Kotecha UH, Movva S, Puri RD, Verma IC. Kotecha UH, et al. Among authors: verma ic. Mol Syndromol. 2012 Aug;3(2):89-93. doi: 10.1159/000339896. Epub 2012 Jul 5. Mol Syndromol. 2012. PMID: 23326254 Free PMC article.

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