Meenakshi Lallar

Chandigarh, CH, India

Last Updated: 09/26/2026

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Found 19 publications

A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Journal: Cureus

Published: May 21, 2024

Incidentally Detected Transient Abnormal Myelopoeisis in a Placenta of Mosaic Down's Syndrome: A Case Report Describing Approach to Diagnosis.

Incidentally Detected Transient Abnormal Myelopoeisis in a Placenta of Mosaic Down's Syndrome: A Case Report Describing Approach to Diagnosis.

Journal: Journal of obstetrics and gynaecology of India

Published: May 21, 2024

B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature.

B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature.

Journal: Fetal and pediatric pathology

Published: September 30, 2021

Mutation and Phenotypic Spectrum of Patients With RASopathies.

Mutation and Phenotypic Spectrum of Patients With RASopathies.

Journal: Indian pediatrics

Published: January 16, 2021

Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss.

Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss.

Journal: Journal of pediatric genetics

Published: December 06, 2019

Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis.

Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis.

Journal: Indian journal of pediatrics

Published: September 19, 2019

Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility.

Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility.

Journal: Journal of genetics

Published: April 05, 2019

A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation.

A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation.

Journal: Clinical dysmorphology

Published: May 31, 2018

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.

Journal: Indian pediatrics

Published: February 12, 2018

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing.

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing.

Journal: Neurology India

Published: September 08, 2017

Fetal intra abdominal umbilical vein varix: Case series and review of literature.

Fetal intra abdominal umbilical vein varix: Case series and review of literature.

Journal: The Indian journal of radiology & imaging

Published: May 19, 2017

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies.

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies.

Journal: Indian journal of pediatrics

Published: December 23, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026