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List of works by Ashwin Dalal

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

scientific article published on 16 December 2015

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

scientific article published on 17 September 2012

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

scientific article published in May 2018

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

scientific article published on 24 November 2015

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

scientific article published on 12 November 2017

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

scientific article published on 22 September 2014

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

scientific article published on 25 March 2014

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

scientific article published on 24 October 2014

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.

scientific article published in April 2018

Recurrent and novel GLB1 mutations in India

scientific article

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

scientific article published on 21 November 2017

Untapped opportunities for rare disease gene discovery in India

scientific article published on 10 September 2020

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.

scientific article published on 21 November 2017

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