Gupta N - Search Results

1

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

Ott CE, Fischer B, Schröter P, Richter R, Gupta N, Verma N, Kabra M, Mundlos S, Rajab A, Neitzel H, Kornak U. Ott CE, et al. Among authors: gupta n. Bone. 2013 Aug;55(2):292-7. doi: 10.1016/j.bone.2013.04.007. Epub 2013 Apr 17. Bone. 2013. PMID: 23685543

2

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

3

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.

4

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.

5

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.

6

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.

7

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.

8

Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.

Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V, Kabra M. Khajuria R, et al. Among authors: gupta n. Genet Test Mol Biomarkers. 2009 Apr;13(2):277-80. doi: 10.1089/gtmb.2008.0142. Genet Test Mol Biomarkers. 2009. PMID: 19371229

9

Three novel variants in X-linked adrenoleukodystrophy.

Shukla P, Gupta N, Kabra M, Ghosh M, Sharma R, Gupta AK, Gulati S, Kalra V. Shukla P, et al. Among authors: gupta n, gupta ak. J Child Neurol. 2009 Jul;24(7):857-60. doi: 10.1177/0883073808330764. Epub 2009 Apr 30. J Child Neurol. 2009. PMID: 19406751

10

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Khajuria R, Sapra S, Ghosh M, Gupta N, Ghulati S, Kalra V, Kabra M. Khajuria R, et al. Among authors: gupta n. Hum Genet. 2010 Jan;127(1):117-8. Hum Genet. 2010. PMID: 20108394 No abstract available.

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