Thakur S - Search Results

1

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Among authors: thakur s. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

2

Utility of molecular studies in incontinentia pigmenti patients.

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

3

Spectrum of severe skeletal dysplasias in North India.

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

4

Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

Ranjan P, Kohli S, Saxena R, Thakur S. Ranjan P, et al. Among authors: thakur s. J Clin Exp Hepatol. 2011 Dec;1(3):204-6. doi: 10.1016/S0973-6883(11)60239-9. Epub 2012 Jan 2. J Clin Exp Hepatol. 2011. PMID: 25755387 Free PMC article.

5

Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.

Yadav S, Thakur S, Kohlhase J, Bhari N, Kabra M, Gupta N. Yadav S, et al. Among authors: thakur s. J Pediatr Genet. 2019 Sep;8(3):163-167. doi: 10.1055/s-0039-1684017. Epub 2019 Apr 9. J Pediatr Genet. 2019. PMID: 31406625 Free PMC article.

6

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC. Thakur S, et al. Indian J Med Res. 2011 Oct;134(4):483-6. Indian J Med Res. 2011. PMID: 22089611 Free PMC article.

7

Methylene Tetrahydrofolate Reductase Deficiency.

Kaur R, Correa ARE, Thakur S, Kabra M, Gupta N. Kaur R, et al. Among authors: thakur s. Indian J Pediatr. 2020 Nov;87(11):951-953. doi: 10.1007/s12098-020-03290-3. Epub 2020 May 26. Indian J Pediatr. 2020. PMID: 32451826

8

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.

Lall M, Thakur S, Puri R, Verma I, Mukerji M, Jha P. Lall M, et al. Among authors: thakur s. Mol Cytogenet. 2011 Sep 21;4:19. doi: 10.1186/1755-8166-4-19. Mol Cytogenet. 2011. PMID: 21936942 Free PMC article.

9

Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

Thakur S, Flanagan SE, Ellard S, Verma IC. Thakur S, et al. Indian Pediatr. 2011 Sep;48(9):733-4. Indian Pediatr. 2011. PMID: 21992908

10

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: thakur s. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,045 results

Search Page

Filters