Gupta N - Search Results

1

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

Sood A, Shamim U, Kharbanda OP, Kabra M, Gupta N, Mathur A, Joshi A, Parveen S, Zahra S, Sharma P, Seth M, Khan A, Faruq M, Mishra D. Sood A, et al. Among authors: gupta n. Cleft Palate Craniofac J. 2022 Nov;59(11):1329-1339. doi: 10.1177/10556656211052781. Epub 2021 Nov 17. Cleft Palate Craniofac J. 2022. PMID: 34787502

2

A female with hemihypertrophy and chylous ascites - Klippel-Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma.

Gupta N, Kabra M, Ramesh K, Garg G, Kaur D, Gupta A, Bal CS. Gupta N, et al. Among authors: gupta a. Clin Dysmorphol. 2006 Oct;15(4):229-231. doi: 10.1097/01.mcd.0000228420.82037.51. Clin Dysmorphol. 2006. PMID: 16957479

3

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.

Gupta N, Bianchi P, Fermo E, Kabra M, Warang P, Kedar P, Gupta N, Colah R. Gupta N, et al. Prenat Diagn. 2007 Feb;27(2):117-8. doi: 10.1002/pd.1616. Prenat Diagn. 2007. PMID: 17191259

4

Maffucci syndrome.

Gupta N, Kabra M. Gupta N, et al. Indian Pediatr. 2007 Feb;44(2):149-50. Indian Pediatr. 2007. PMID: 17351310 Free article. No abstract available.

5

Recent advances in approach to treatment of genetic disorders: clinicians perspective.

Gupta N, Kabra M. Gupta N, et al. Indian Pediatr. 2007 May;44(5):361-9. Indian Pediatr. 2007. PMID: 17536138 Free article. Review.

6

Pyle metaphyseal dysplasia.

Gupta N, Kabra M, Das CJ, Gupta AK. Gupta N, et al. Among authors: gupta ak. Indian Pediatr. 2008 Apr;45(4):323-5. Indian Pediatr. 2008. PMID: 18451455 Free article.

7

Carbimazole embryopathy-bilateral choanal atresia and patent vitello-intestinal duct: a case report and review of literature.

Kannan L, Mishra S, Agarwal R, Kartikeyan V, Gupta N, Kabra M. Kannan L, et al. Among authors: gupta n. Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):649-51. doi: 10.1002/bdra.20483. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18671255 Review.

8

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.

Halder A, Jain M, Kabra M, Gupta N. Halder A, et al. Among authors: gupta n. Mol Cytogenet. 2008 Aug 10;1:18. doi: 10.1186/1755-8166-1-18. Mol Cytogenet. 2008. PMID: 18691436 Free PMC article.

9

Larsen syndrome.

Gupta N, Kabra M. Gupta N, et al. Indian Pediatr. 2008 Sep;45(9):783-4. Indian Pediatr. 2008. PMID: 18820390 No abstract available.

10

Megalencephalic leukodystrophy with simple hemihyperplasia: a rare association.

Shukla P, Gupta N, Balakrishnan P, Ghosh M, Gupta AK, Sharma R, Kabra M. Shukla P, et al. Among authors: gupta n, gupta ak. Clin Dysmorphol. 2009 Jan;18(1):49-51. doi: 10.1097/MCD.0b013e3283136919. Clin Dysmorphol. 2009. PMID: 19050405 No abstract available.

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