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List of works by Ratna D Puri

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

scientific article published on September 21, 2011

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

scientific article published on May 1, 2012

Characterization of a Polyclonal Antibody to Human Pituitary Tumor Transforming Gene 1 (PTTG1) Protein ⬇️

scientific article published on 01 December 2001

Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene

scientific article published on 26 October 2017

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

scientific article published on 03 March 2020

Filaggrin Null-Mutation in Asthma in an Indian Cohort: One Link in a Polygenic Trait

scientific article published on 10 July 2020

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

scientific article published on 30 September 2019

Survival Analysis of Down Syndrome Cohort in a Tertiary Health Care Center in India ⬇️

scientific article published on July 26, 2012

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

scientific article published on 28 January 2019

Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians ⬇️

scientific article published on July 5, 2012

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians ⬇️

scientific article published on January 1, 2013

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