Ratna Dua Puri
New Delhi, DL, India
Last Updated: 09/26/2026
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Found 11 publications
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Journal: American journal of medical genetics. Part A
Published: November 16, 2021
Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 23, 2021
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.
Journal: American journal of medical genetics. Part A
Published: December 26, 2020
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
Journal: Journal of the American Society of Nephrology : JASN
Published: April 20, 2020
Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.
Journal: Journal of obstetrics and gynaecology of India
Published: April 05, 2020
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
Journal: Molecular syndromology
Published: November 25, 2019
The fatal fetal tumor: a geneticist's perspective.
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: May 23, 2019
Fetal valproate syndrome as a phenocopy of Kleefstra syndrome.
Journal: Birth defects research
Published: May 16, 2018
Down syndrome in India--diagnosis, screening, and prenatal diagnosis.
Journal: Clinics in laboratory medicine
Published: June 26, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026