Showing results (1-10 of 45) with videos related to
Sort By:
Pageof 5
Seminars in Cell & Developmental Biology|December 22, 2015
Altered FGF signalling in congenital craniofacial and skeletal disordersShahida Moosa, Bernd WollnikEuropean Journal of Human Genetics : EJHG|July 28, 2026
Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024)Marianne Gush, Shahida MoosaAmerican Journal of Medical Genetics. Part A|September 22, 2021
Novel hemizygous loss-of-function variant in NONO identified in a South African boyKimberly Christine Coetzer, Shahida MoosaEuropean Journal of Human Genetics : EJHG|December 15, 2023
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South AfricaKimberly Christine Coetzer, Ekkehard Zöllner, Shahida MoosaClinical Dysmorphology|June 5, 2012
Sirenomelia: four further cases with discussion of associated upper limb defectsShahida Moosa, Lindsay Ann Lambie, Amanda KrauseAnnals of Human Genetics|July 25, 2018
Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfectaMercedes Rodriguez Celin, Shahida Moosa, Virginia FanoEuropean Journal of Medical Genetics|September 1, 2023
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrumKimberly Christine Coetzer, Jost Dieckerhoff, Bernd Wollnik, et al.Journal of Genetic Counseling|April 10, 2026
Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South AfricaJodie van Niekerk, Marianne Gush, Shahida Moosa, et al.American Journal of Medical Genetics. Part A|May 26, 2022
Undiagnosed disease program in South Africa: Results from first 100 exomesShahida Moosa, Kimberly Christine Coetzer, Eugene Lee, et al.European Journal of Human Genetics : EJHG|May 3, 2024
Utility of next generation sequencing in paediatric neurological disorders: experience from South AfricaMagriet van Niekerk, Shahida Moosa, Ronald van Toorn, et al.Pageof 5