Puri RD - Search Results

1

Arora V, Tandon R, Puri RD, Lall M, Noorani I, Suman P. Arora V, et al. Among authors: puri rd. Indian J Pediatr. 2022 Nov;89(11):1117-1119. doi: 10.1007/s12098-022-04208-x. Epub 2022 Jun 22. Indian J Pediatr. 2022. PMID: 35731502

2

Dysmorphology diagnosis.

Puri RD, Verma IC. Puri RD, et al. Indian J Pediatr. 2004 Jun;71(6):535-9. doi: 10.1007/BF02724297. Indian J Pediatr. 2004. PMID: 15226565

3

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.

Lall M, Thakur S, Puri R, Verma I, Mukerji M, Jha P. Lall M, et al. Mol Cytogenet. 2011 Sep 21;4:19. doi: 10.1186/1755-8166-4-19. Mol Cytogenet. 2011. PMID: 21936942 Free PMC article.

4

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Bijarnia S, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC. Bijarnia S, et al. Among authors: puri rd. Indian J Pediatr. 2013 Jan;80(1):26-31. doi: 10.1007/s12098-012-0862-1. Epub 2012 Aug 10. Indian J Pediatr. 2013. PMID: 22878930

5

A familial deletion 4q syndrome: An outcome of a paracentric inversion.

Lall M, Puri R, Saviour P, Verma I. Lall M, et al. Indian J Hum Genet. 2012 May;18(2):238-40. doi: 10.4103/0971-6866.100780. Indian J Hum Genet. 2012. PMID: 23162304 Free PMC article.

6

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

7

Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges!

Puri RD, Kabra M. Puri RD, et al. Indian J Pediatr. 2016 Oct;83(10):1131-2. doi: 10.1007/s12098-016-2204-1. Epub 2016 Aug 11. Indian J Pediatr. 2016. PMID: 27510613 No abstract available.

8

Genetic Approach to Diagnosis of Intellectual Disability.

Puri RD, Tuteja M, Verma IC. Puri RD, et al. Indian J Pediatr. 2016 Oct;83(10):1141-9. doi: 10.1007/s12098-016-2205-0. Epub 2016 Sep 13. Indian J Pediatr. 2016. PMID: 27619815

9

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.

Soni JP, Puri RD, Jetha K, Bhavani GS, Chaudhary M, Kohli S, Verma IC. Soni JP, et al. Among authors: puri rd. Indian J Pediatr. 2016 Nov;83(11):1341-1345. doi: 10.1007/s12098-016-2218-8. Epub 2016 Oct 18. Indian J Pediatr. 2016. PMID: 27753005

10

Erratum to: Genetic Approach to Diagnosis of Intellectual Disability.

Puri RD, Tuteja M, Verma IC. Puri RD, et al. Indian J Pediatr. 2017 Mar;84(3):256. doi: 10.1007/s12098-016-2252-6. Indian J Pediatr. 2017. PMID: 27909982 No abstract available.

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