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Publications by Natasha Pahuja

Two Novel Missense Substitutions in the VSX1 Gene: Clinical and Genetic Analysis of Families With Keratoconus From India

BMC Medical Genetics

English

Related publications

Analysis of the VSX1 Gene in Sporadic Keratoconus Patients From China

BMC Ophthalmology

English

Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families From North India

Archives of Ophthalmology

English

Late Onset MLD With Normal Nerve Conduction Associated With Two Novel Missense Mutations in the ASA Gene

Journal of Neurology, Neurosurgery and Psychiatry

English

Two Novel Missense Mutations in the Myostatin Gene Identified in Japanese Patients With Duchenne Muscular Dystrophy

BMC Medical Genetics

English

Novel Missense Variants in the RNF213 Gene From a European Family With Moyamoya Disease

Human Genome Variation

Molecular Biology

English

In Silico Analysis of Missense Substitutions Using Sequence-Alignment Based Methods

English

Homozygosity for Non-H1069q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-Analysis

Internal Medicine

Molecular Biology

English

Analysis of KERA in Four Families With Cornea Plana Identifies Two Novel Mutations

Acta Ophthalmologica

English

Novel Missense Mutations in MYO7A Underlying Postlingual High- Or Low-Frequency Non-Syndromic Hearing Impairment in Two Large Families From China

Journal of Human Genetics

English