Kohli S - Search Results

1

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC. Gupta D, et al. Among authors: kohli s. Eur J Med Genet. 2015 Sep;58(9):471-8. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26257134

2

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

Verma IC, Bijarnia S, Saxena R, Kohli S, Puri RD, Thomas E, Chowdhary D, Jha SN, Grover AK. Verma IC, et al. Among authors: kohli s. Indian J Ophthalmol. 2005 Sep;53(3):167-71. doi: 10.4103/0301-4738.16674. Indian J Ophthalmol. 2005. PMID: 16137960 Free article.

3

Prenatal diagnosis of phenylketonuria.

Kohli S, Saxena R, Thomas E, Rao P, Verma IC. Kohli S, et al. Indian J Med Res. 2005 Nov;122(5):400-3. Indian J Med Res. 2005. PMID: 16456253

4

Molecular studies of achondroplasia.

Nahar R, Saxena R, Kohli S, Puri R, Verma IC. Nahar R, et al. Among authors: kohli s. Indian J Orthop. 2009 Apr;43(2):194-6. doi: 10.4103/0019-5413.50856. Indian J Orthop. 2009. PMID: 19838370 Free PMC article.

5

Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.

Kohli S, Saxena R, Thomas E, Singh J, Verma IC. Kohli S, et al. Neurol India. 2010 Nov-Dec;58(6):852-6. doi: 10.4103/0028-3886.73744. Neurol India. 2010. PMID: 21150048 Free article.

6

Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome.

Saxena R, Kohli S, Guleria K, Verma IC. Saxena R, et al. Among authors: kohli s. Hum Genet. 2010 Apr;127(4):480. Hum Genet. 2010. PMID: 21488255 No abstract available.

7

Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy.

Saxena R, Kohli S, Verma IC. Saxena R, et al. Among authors: kohli s. Hum Genet. 2010 Apr;127(4):480. Hum Genet. 2010. PMID: 21488301 No abstract available.

8

Novel human pathological mutations. Gene symbol: PAX3. Disease: Waardenburg syndrome.

Kohli S, Saxena R, Verma IC. Kohli S, et al. Hum Genet. 2010 Apr;127(4):485. Hum Genet. 2010. PMID: 21488309 No abstract available.

9

Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.

Kohli S, Saxena R, Verma IC. Kohli S, et al. Hum Genet. 2010 Apr;127(4):485. Hum Genet. 2010. PMID: 21488310 No abstract available.

10

Utility of molecular studies in incontinentia pigmenti patients.

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

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