Kumar S - Search Results

1

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE. Díaz-González F, et al. Among authors: kumar d, kumar s. J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26. J Med Genet. 2022. PMID: 33106379

2

Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.

Singh A, Goyal M, Kumar S, Kress W, Kapoor S. Singh A, et al. Among authors: kumar s. Indian J Pediatr. 2014 Nov;81(11):1230-2. doi: 10.1007/s12098-014-1424-5. Epub 2014 Apr 6. Indian J Pediatr. 2014. PMID: 24705944

3

Newborn screening for G6PD deficiency: A 2-year data from North India.

Goyal M, Garg A, Goyal MB, Kumar S, Ramji S, Kapoor S. Goyal M, et al. Among authors: kumar s. Indian J Public Health. 2015 Apr-Jun;59(2):145-8. doi: 10.4103/0019-557X.157537. Indian J Public Health. 2015. PMID: 26021654 Free article.

4

Frontotemporal Atrophy: Presenting Sign in Infantile Cobalamin Deficiency.

Vats P, Verma P, Varughese B, Kumar S, Kapoor S. Vats P, et al. Among authors: kumar s. Indian J Pediatr. 2018 Jul;85(7):565-566. doi: 10.1007/s12098-017-2542-7. Epub 2017 Nov 23. Indian J Pediatr. 2018. PMID: 29170924 No abstract available.

5

Genetic alteration of Exon 5 of the PTEN gene in Indian patients with ameloblastoma.

Narayan B, Urs AB, Augustine J, Singh H, Polipalli SK, Kumar S, Kapoor S. Narayan B, et al. Among authors: kumar s. Oral Surg Oral Med Oral Pathol Oral Radiol. 2019 Mar;127(3):225-230. doi: 10.1016/j.oooo.2018.11.011. Epub 2018 Dec 3. Oral Surg Oral Med Oral Pathol Oral Radiol. 2019. PMID: 30598407

6

Genomics of rare genetic diseases-experiences from India.

GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.

7

STAT 1 mutation associated with chronic mucocutaneous candidiasis and pancytopenia.

Dabas A, Arora P, Kumar S, Kapoor S, Yadav S. Dabas A, et al. Among authors: kumar s. Pediatr Allergy Immunol. 2021 May;32(4):798-800. doi: 10.1111/pai.13451. Epub 2021 Jan 25. Pediatr Allergy Immunol. 2021. PMID: 33421196 No abstract available.

8

Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

Kumar M, Wadhwa S, Tyagi N, Ahmad I, Kumar S, Sagar S, Zahra S, Kamai A, Shamim U, Kapoor S, Faruq M. Kumar M, et al. Among authors: kumar s. Stem Cell Res. 2021 May;53:102340. doi: 10.1016/j.scr.2021.102340. Epub 2021 Apr 19. Stem Cell Res. 2021. PMID: 33887582 Free article.

9

Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center.

Kumar S, Sait H, Polipalli SK, Pradhan GS, Pruthi S, Kapoor S. Kumar S, et al. Indian J Radiol Imaging. 2021 Apr;31(2):383-390. doi: 10.1055/s-0041-1734366. Epub 2021 Jul 28. Indian J Radiol Imaging. 2021. PMID: 34556923 Free PMC article.

10

Role of melatonin mediated G-CSF induction in hematopoietic system of gamma-irradiated mice.

Kumar A, Choudhary S, Kumar S, Adhikari JS, Kapoor S, Chaudhury NK. Kumar A, et al. Among authors: kumar s. Life Sci. 2022 Jan 15;289:120190. doi: 10.1016/j.lfs.2021.120190. Epub 2021 Dec 6. Life Sci. 2022. PMID: 34883100

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