Aggarwal S - Search Results

1

Coffin-Siris syndrome is a SWI/SNF complex disorder.

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: aggarwal s. Clin Genet. 2014 Jun;85(6):548-54. doi: 10.1111/cge.12225. Epub 2013 Jul 23. Clin Genet. 2014. PMID: 23815551

2

Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation.

Angalena R, Aggarwal S, Phadke SR, Dalal A. Angalena R, et al. Among authors: aggarwal s. Int J Lab Hematol. 2012 Aug;34(4):e7-9. doi: 10.1111/j.1751-553X.2012.01412.x. Epub 2012 Mar 12. Int J Lab Hematol. 2012. PMID: 22409273 No abstract available.

3

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S. Love JM, et al. Among authors: aggarwal s. J Child Neurol. 2014 Jan;29(1):122-7. doi: 10.1177/0883073812471432. Epub 2013 Jan 24. J Child Neurol. 2014. PMID: 23349517

4

GAPO syndrome with deafness: new feature or incidental finding?

Aggarwal S, Uttarilli A, Dalal AB. Aggarwal S, et al. Clin Dysmorphol. 2013 Oct;22(4):161-163. doi: 10.1097/MCD.0000000000000008. Clin Dysmorphol. 2013. PMID: 24326960 No abstract available.

5

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.

Aggarwal S, Coutinho MF, Dalal AB, Mohamed Nurul Jain SJ, Prata MJ, Alves S. Aggarwal S, et al. Gene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 28. Gene. 2014. PMID: 24685522

6

Prenatal diagnosis in India is not limited to sex selection.

Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Dalal AB, et al. Among authors: aggarwal s. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. Genet Med. 2015. PMID: 25356971 Free article. No abstract available.

7

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Bhavani GS, et al. Among authors: aggarwal s. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988854 No abstract available.

8

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.

Bhowmik AD, Dalal AB, Matta D, Sundaram C, Aggarwal S. Bhowmik AD, et al. Among authors: aggarwal s. Indian J Pediatr. 2016 Apr;83(4):354-5. doi: 10.1007/s12098-015-1822-3. Epub 2015 Jun 25. Indian J Pediatr. 2016. PMID: 26104111 No abstract available.

9

Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.

Aggarwal S, Jain SJ, Bhowmik AD, Tandon A, Dalal A. Aggarwal S, et al. Am J Med Genet A. 2015 Nov;167A(11):2858-60. doi: 10.1002/ajmg.a.37251. Epub 2015 Jul 14. Am J Med Genet A. 2015. PMID: 26172087 No abstract available.

10

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

Aggarwal S, Bahal A, Dalal A. Aggarwal S, et al. Eur J Med Genet. 2016 Jan;59(1):5-10. doi: 10.1016/j.ejmg.2015.11.014. Epub 2015 Dec 12. Eur J Med Genet. 2016. PMID: 26689621 Review.

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