8 results on '"Moosa, Shahida"'
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2. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
3. P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases
4. O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors*
5. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study
6. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
7. Altered FGF signalling in congenital craniofacial and skeletal disorders
8. Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
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