Bijarnia-Mahay S - Search Results

1

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.

2

Mitochondrial DNA depletion syndrome causing liver failure.

Bijarnia-Mahay S, Mohan N, Goyal D, Verma IC. Bijarnia-Mahay S, et al. Indian Pediatr. 2014 Aug;51(8):666-8. doi: 10.1007/s13312-014-0475-z. Indian Pediatr. 2014. PMID: 25129007 Free article.

3

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Goyal M, Bijarnia-Mahay S, Kingsmore S, Farrow E, Saunders C, Saxena R, Verma IC. Goyal M, et al. Indian J Pediatr. 2015 May;82(5):474-7. doi: 10.1007/s12098-014-1608-z. Epub 2014 Oct 29. Indian J Pediatr. 2015. PMID: 25348461 Free PMC article.

4

Newborn screening: need of the hour in India.

Verma IC, Bijarnia-Mahay S, Jhingan G, Verma J. Verma IC, et al. Indian J Pediatr. 2015 Jan;82(1):61-70. doi: 10.1007/s12098-014-1615-0. Epub 2014 Dec 9. Indian J Pediatr. 2015. PMID: 25482213 Review.

5

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

Bijarnia-Mahay S, Movva S, Gupta N, Sharma D, Puri RD, Kotecha U, Saxena R, Kabra M, Mohan N, Verma IC. Bijarnia-Mahay S, et al. JIMD Rep. 2015;19:85-93. doi: 10.1007/8904_2014_374. Epub 2015 Jan 18. JIMD Rep. 2015. PMID: 25595217 Free PMC article.

6

Citrin deficiency: A treatable cause of acute psychosis in adults.

Bijarnia-Mahay S, Häberle J, Rüfenacht V, Shigematsu Y, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Neurol India. 2015 Mar-Apr;63(2):220-2. doi: 10.4103/0028-3886.156285. Neurol India. 2015. PMID: 25947987 Free article.

7

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

8

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Verma J, et al. JIMD Rep. 2017;31:15-27. doi: 10.1007/8904_2016_548. Epub 2016 Mar 24. JIMD Rep. 2017. PMID: 27008195 Free PMC article.

9

Is the diagnostic yield influenced by the indication for fetal autopsy?

Puri RD, Kotecha U, Lall M, Dash P, Bijarnia-Mahay S, Verma IC. Puri RD, et al. Am J Med Genet A. 2016 Aug;170(8):2119-26. doi: 10.1002/ajmg.a.37743. Epub 2016 May 20. Am J Med Genet A. 2016. PMID: 27197608

10

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

64 results

Search Page

Filters