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List of works by Shahida Moosa

Altered FGF signalling in congenital craniofacial and skeletal disorders

scientific article published on 11 December 2015

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

scientific article published on 01 June 2018

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

scientific article published on 12 March 2019

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

scientific article published on 30 March 2017

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

scientific article published on 28 July 2017

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

scientific article

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta

scientific article published on 24 July 2018

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