Sana Zahra

New Delhi, DL, India

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons.

Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 14, 2023

Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).

Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).

Journal: Stem cell research

Published: November 10, 2023

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient.

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient.

Journal: Stem cell research

Published: November 08, 2023

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

Journal: Advanced genetics (Hoboken, N.J.)

Published: December 22, 2021

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: November 17, 2021

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

Journal: Indian pediatrics

Published: May 13, 2021

Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

Journal: Stem cell research

Published: October 29, 2020

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Journal: Journal of medical genetics

Published: May 18, 2020

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

Journal: Human mutation

Published: April 03, 2020

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Journal: Clinical genetics

Published: December 31, 2019

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

Journal: Neurobiology of aging

Published: November 15, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026