327 results on '"El-Shanti, Hatem"'
Search Results
2. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
3. The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever
4. P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*
5. Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant
6. Genetic Disorders in Jordan
7. Familial Mediterranean Fever and Other Autoinflammatory Disorders
8. TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis
9. Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred
10. Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans
11. eP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant
12. eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study
13. A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
14. Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture
15. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
16. A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis
17. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
18. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram Syndrome 2
19. Familial Mediterranean fever in Arabs
20. Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families
21. Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome
22. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review
23. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation
24. A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
25. Familial disorder of sex determination in seven individuals from three related sibships
26. Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features
27. Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population
28. A Novel Mutation of Il1rn in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil
29. Review for "Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and the beyond"
30. A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant
31. The Spectrum of Familial Mediterranean Fever Gene Mutations in Arabs: Report of a Large Series
32. Hereditary spastic paraplegia
33. 34 Mutations in the interleukin-1 receptor antagonist cause a new autoinflammatory disease
34. Neutrophil dysfunction in a family with a SAPHO syndrome–like phenotype
35. Breakpoint Localization Using Array-CGH in Three Siblings With an Unbalanced 4q;16q Translocation and Childhood Apraxia of Speech (CAS)
36. The Infevers Autoinflammatory Mutation Online Registry: Update With New Genes and Functions
37. A splice site mutation confirms the role of LPIN2 in Majeed syndrome
38. The clinical spectrum of Henoch-Schönlein purpura in infants and young children
39. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
40. A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
41. Genotype/phenotype correlations in Arab patients with familial Mediterranean fever
42. Progressive pseudorheumatoid dysplasia: report of a family and review
43. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
44. Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q
45. Cover Image, Volume 40, Issue 3
46. Further delineation of El-Shanti syndrome
47. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
48. Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation
49. A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
50. Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction
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