Aditi Joshi

Mall Road
New Delhi, DL, India

Last Updated: 09/26/2026

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Found 12 publications

Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.

Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 19, 2022

Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

Journal: Neurogenetics

Published: October 11, 2022

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

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

Journal: Journal of neuromuscular diseases

Published: October 11, 2021

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

Journal: Neurogenetics

Published: June 04, 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

A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.

A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.

Journal: Journal of molecular neuroscience : MN

Published: January 07, 2021

An Indian child with Coats plus syndrome due to mutations in STN1.

An Indian child with Coats plus syndrome due to mutations in STN1.

Journal: American journal of medical genetics. Part A

Published: February 19, 2020

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Journal: Clinical genetics

Published: May 31, 2019

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.

Journal: Molecular genetics and metabolism reports

Published: February 21, 2018

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.

Journal: The journal of gene medicine

Published: November 03, 2017

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Last Updated: 09/26/2026