Kabra M - 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: kabra m. 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. Among authors: kabra m. 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. Among authors: kabra m. 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. Among authors: kabra m. Indian Pediatr. 2007 May;44(5):361-9. Indian Pediatr. 2007. PMID: 17536138 Free article. Review.

5

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: kabra m. Mol Cytogenet. 2008 Aug 10;1:18. doi: 10.1186/1755-8166-1-18. Mol Cytogenet. 2008. PMID: 18691436 Free PMC article.

6

Larsen syndrome.

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

7

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: kabra m. Genet Test Mol Biomarkers. 2009 Apr;13(2):277-80. doi: 10.1089/gtmb.2008.0142. Genet Test Mol Biomarkers. 2009. PMID: 19371229

8

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: kabra m. J Child Neurol. 2009 Jul;24(7):857-60. doi: 10.1177/0883073808330764. Epub 2009 Apr 30. J Child Neurol. 2009. PMID: 19406751

9

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

Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V, Kabra M. Khajuria R, et al. Among authors: kabra m. Hum Genet. 2010 Jan;127(1):118. Hum Genet. 2010. PMID: 20108430 No abstract available.

10

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U. Phadke SR, et al. Among authors: kabra m. Indian J Med Res. 2010 Apr;131:508-14. Indian J Med Res. 2010. PMID: 20424301 Free article.

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