Lakshmi P. Rao
Manipala, KA, India
Last Updated: 09/26/2026
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Found 8 publications
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.
Journal: Clinical dysmorphology
Published: August 14, 2024
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Journal: American journal of medical genetics. Part A
Published: July 06, 2024
Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in CARMIL2.
Journal: Indian journal of nephrology
Published: December 08, 2023
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Journal: Clinical genetics
Published: November 13, 2023
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Journal: European journal of human genetics : EJHG
Published: June 29, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Journal: Neurogenetics
Published: November 07, 2022
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.
Journal: European journal of medical genetics
Published: December 12, 2020
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Journal: European journal of human genetics : EJHG
Published: November 24, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026