Bijarnia-Mahay S - Search Results

1

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Mroczek M, Durmus H, Bijarnia-Mahay S, Töpf A, Ghaoui R, Bryen S, Duff J, England E, Cooper ST, MacArthur DG, Straub V. Mroczek M, et al. Neuromuscul Disord. 2020 Apr;30(4):310-314. doi: 10.1016/j.nmd.2020.02.006. Epub 2020 Feb 14. Neuromuscul Disord. 2020. PMID: 32331917

2

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

Arora V, Puri RD, Bijarnia-Mahay S, Verma IC. Arora V, et al. Am J Med Genet A. 2020 May;182(5):953-956. doi: 10.1002/ajmg.a.61534. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32128942

3

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC. Gupta D, et al. Eur J Med Genet. 2015 Sep;58(9):471-8. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26257134

4

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.

Kohli S, Saxena R, Thomas E, Singh K, Bijarnia Mahay S, Puri RD, Verma IC. Kohli S, et al. Indian J Pediatr. 2020 Jul;87(7):495-504. doi: 10.1007/s12098-020-03286-z. Epub 2020 May 2. Indian J Pediatr. 2020. PMID: 32358784

5

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome.

Bhatia S, Bijarnia-Mahay S, Dubey S, Gourie-Devi M. Bhatia S, et al. Neurol India. 2020 Nov-Dec;68(6):1431-1434. doi: 10.4103/0028-3886.304068. Neurol India. 2020. PMID: 33342883 Free article.

6

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Nampoothiri S, Yesodharan D, Bhattacherjee A, Ahamed H, Puri RD, Gupta N, Kabra M, Ranganath P, Bhat M, Phadke S, Radha Rama Devi A, Jagadeesh S, Danda S, Sylaja PN, Mandal K, Bijarnia-Mahay S, Makkar R, Verma IC, Dalal A, Ramaswami U. Nampoothiri S, et al. JIMD Rep. 2020 Aug 15;56(1):82-94. doi: 10.1002/jmd2.12156. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204599 Free PMC article.

7

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.

Arora V, Bijarnia-Mahay S, Dubey S, Saxena R. Arora V, et al. Mol Syndromol. 2020 Dec;11(5-6):309-314. doi: 10.1159/000510480. Epub 2020 Sep 30. Mol Syndromol. 2020. PMID: 33510602 Free PMC article.

8

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.

Bijarnia-Mahay S, Roy G, Padiath QS, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Ann Indian Acad Neurol. 2021 May-Jun;24(3):413-416. doi: 10.4103/aian.AIAN_1262_20. Epub 2021 May 21. Ann Indian Acad Neurol. 2021. PMID: 34447008 Free PMC article.

9

Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.

Arora V, Bijarnia-Mahay S, Saxena KK, Suman P, Kukreja S. Arora V, et al. J Pediatr Genet. 2020 Aug 4;11(1):63-67. doi: 10.1055/s-0040-1715120. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186393 Free PMC article.

10

The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.

Arora V, Puri RD, Bhai P, Sharma N, Bijarnia-Mahay S, Dimri N, Baijal A, Saxena R, Verma I. Arora V, et al. Am J Med Genet A. 2019 Mar;179(3):480-485. doi: 10.1002/ajmg.a.61030. Epub 2019 Jan 28. Am J Med Genet A. 2019. PMID: 30690882

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