Dua Puri R - Search Results

1

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Arora V, Khan S, El-Hattab AW, Dua Puri R, Rocha ME, Merdzanic R, Paknia O, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P, Verma IC. Arora V, et al. Among authors: dua puri r. J Am Soc Nephrol. 2021 Jan;32(1):223-228. doi: 10.1681/ASN.2020040478. Epub 2020 Oct 5. J Am Soc Nephrol. 2021. PMID: 33020172 Free PMC article.

2

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.

Verma IC, Lall M, Dua Puri R. Verma IC, et al. Among authors: dua puri r. Clin Lab Med. 2012 Jun;32(2):231-48. doi: 10.1016/j.cll.2012.04.010. Clin Lab Med. 2012. PMID: 22727002 Review.

3

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.

Arora V, Aggarwal S, Bijarnia S, Lall M, Joshi A, Dua-Puri R, Arora U, Verma I. Arora V, et al. Among authors: dua puri r. Mol Syndromol. 2019 Jan;9(6):312-318. doi: 10.1159/000494995. Epub 2018 Dec 14. Mol Syndromol. 2019. PMID: 30800048 Free PMC article.

4

The fatal fetal tumor: a geneticist's perspective.

Arora V, Bijarnia Mahay S, Rao S, Dimri N, Manocha A, Mansukhani C, Mishra R, Gupta S, Dua Puri R, Verma IC. Arora V, et al. Among authors: dua puri r. J Matern Fetal Neonatal Med. 2021 Mar;34(6):1006-1008. doi: 10.1080/14767058.2019.1622671. Epub 2019 Jun 3. J Matern Fetal Neonatal Med. 2021. PMID: 31113261

5

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.

Mishra R, Jain V, Gupta D, Saxena R, Kulshreshtha S, Ramprasad VL, Verma IC, Dua Puri R. Mishra R, et al. Among authors: dua puri r. Mol Syndromol. 2020 Feb;11(1):43-49. doi: 10.1159/000505506. Epub 2020 Jan 17. Mol Syndromol. 2020. PMID: 32256301 Free PMC article.

6

Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.

Verma J, Roy P, Thomas DC, Dua Puri R, Verma IC. Verma J, et al. Among authors: dua puri r. Clin Chim Acta. 2021 Oct;521:177-190. doi: 10.1016/j.cca.2021.07.017. Epub 2021 Jul 17. Clin Chim Acta. 2021. PMID: 34280392

7

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.

Verma IC, Kohli S, Shenbagam S, Bijarnia-Mahay S, DuaPuri R, Saxena R. Verma IC, et al. Clin Genet. 2020 Aug;98(2):198-199. doi: 10.1111/cge.13796. Clin Genet. 2020. PMID: 32666593 No abstract available.

8

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. Among authors: dua puri r. 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

9

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome.

Arora V, Joshi A, Lall M, Agarwal S, Bijarnia Mahay S, Dua Puri R, Chander Verma I. Arora V, et al. Among authors: dua puri r. Birth Defects Res. 2018 Sep 1;110(15):1205-1209. doi: 10.1002/bdr2.1379. Epub 2018 Aug 27. Birth Defects Res. 2018. PMID: 30151876 No abstract available.

10

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.

Bajaj Lall M, Agarwal S, Paliwal P, Saviour P, Joshi A, Joshi A, Mahajan S, Bijarnia-Mahay S, Dua Puri R, Verma IC. Bajaj Lall M, et al. Among authors: dua puri r. J Obstet Gynaecol India. 2021 Apr;71(2):156-167. doi: 10.1007/s13224-020-01413-6. Epub 2021 Jan 19. J Obstet Gynaecol India. 2021. PMID: 34149218 Free PMC article.

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