129 results on '"Alkuraya, F. S."'
Search Results
2. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
3. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family
4. Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit
5. Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers–Danlos syndrome
6. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D
7. Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome
8. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging
9. NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility
10. Gonadal mosaicism as a rare cause of autosomal recessive inheritance
11. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
12. X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
13. Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies
14. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
15. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience
16. Mutations in ALDH1A3 cause microphthalmia
17. Homozygous truncation of SIX6 causes complex microphthalmia in humans
18. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation
19. A novel mutation in PRDM5 in brittle cornea syndrome
20. A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement
21. A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33
22. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs
23. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
24. C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
25. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
26. Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping
27. Zellweger Syndrome Caused by PEX13 Deficiency: Report of Two Novel Mutations
28. TUFTING ENTEROPATHY AND CHRONIC ARTHRITIS: A NEWLY RECOGNIZED ASSOCIATION WITH A NOVEL EPCAM GENE MUTATION: C05
29. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation
30. Correction to: Expanding the genetic heterogeneity of intellectual disability (Human Genetics, (2017), 136, 11-12, (1419-1429), 10.1007/s00439-017-1843-2)
31. An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
32. An autosomal recessiveDNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
33. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
34. Phenotypic characterization of <italic>KCTD3</italic>‐related developmental epileptic encephalopathy.
35. Expanding the phenotype of <italic>SLC25A42</italic>‐associated mitochondrial encephalomyopathy.
36. WDR45B‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.
37. Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus
38. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
39. RGS6: A Novel Gene Associated With Congenital Cataract, Mental Retardation, and Microcephaly in a Tunisian Family
40. An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.
41. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
42. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
43. Mutations inALDH1A3cause microphthalmia
44. Homozygous truncation of SIX6 causes complex microphthalmia in humans
45. Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency.
46. The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers‐Danlos syndrome.
47. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
48. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
49. Novel CENPJ mutation causes Seckel syndrome
50. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping
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