166 results on '"Moosa, Shahida"'
Search Results
2. Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa
3. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
4. Genomic testing in Low- and Middle-Income Countries (LMIC)
5. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
6. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
7. B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
8. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study
9. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
10. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
11. Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome
12. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
13. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
14. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
15. Comparison of clinical geneticist and computer visual attention in assessing genetic conditions
16. GENETIC TESTING IN THE ORTHOPAEDIC CLINIC
17. Human and computer attention in assessing genetic conditions
18. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
19. GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases
20. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
21. Altered FGF signalling in congenital craniofacial and skeletal disorders
22. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
23. Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis
24. P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases
25. O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors*
26. Perspectives on the future of dysmorphology
27. Genomic basis of syndromic short stature in an Algerian patient cohort
28. Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum
29. Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
30. Undiagnosed disease program in South Africa: Results from first 100 exomes
31. A rare case of tuberous sclerosis complex-associated renal cell carcinoma
32. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
33. Perspectives on the future of dysmorphology.
34. Genomic basis of syndromic short stature in an Algerian patient cohort
35. Novel hemizygous loss‐of‐function variant inNONOidentified in a South African boy
36. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
37. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
38. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
39. Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy.
40. Genetic screening of South African families with Parkinson's disease.
41. Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome
42. Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta
43. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
44. Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G > A p.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism
45. Next-generation-Sequencing in the Clinic: novel genes and novel mutations resolve the diagnostic odyssey for for patients with undiagnosed genetic disorders
46. Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome
47. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2
48. Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
49. A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival
50. Smith-Kingsmore syndrome: A third family with theMTORmutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
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