16 results on '"Megarbane, Andre"'
Search Results
2. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
3. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)
4. Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever
5. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
6. How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
7. Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation
8. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
9. Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis
10. Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study
11. Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review
12. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia
13. Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome
14. A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation
15. Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q
16. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype–genotype correlation
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