Ashwin Dalal
0000-0001-5929-745X
10 papers found
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Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants
Untapped opportunities for rare disease gene discovery in India
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation
Familial choreoathetosis due to novel heterozygous mutation inPDE10A
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis and polydactyly
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