A novel autosomal recessive Huntington's disease-like neurodegenerative disorder in a Saudi familyAL-TAHAN, A. Y; DIVAKARAN, M. P; KAMBOURIS, M et al.Saudi medical journal. 1999, Vol 20, Num 1, pp 85-89, issn 0379-5284Article

Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi ArabiaBANJAR, H; KAMBOURIS, M; MEYER, B. F et al.Annals of tropical paediatrics. 1999, Vol 19, Num 1, pp 69-73, issn 0272-4936Article

Mutation of p16, p21 or cyclin dependent kinase 4 is rare in acute lymphoblastic leukaemiaQARI, M. H; KHALIL, S. H; KAMBOURIS, M et al.British journal of haematology. 1998, Vol 103, Num 2, pp 467-472, issn 0007-1048Article

An augmented auditory feedback deviceBATAVIA, M; GIANUTSOS, J. G; KAMBOURIS, M et al.Archives of physical medicine and rehabilitation. 1997, Vol 78, Num 12, pp 1389-1392, issn 0003-9993Article

Familial crossed polysundactylyGOLDSTEIN, D. J; KAMBOURIS, M; WARD, R. E et al.American journal of medical genetics. 1994, Vol 50, Num 3, pp 215-223, issn 0148-7299Article

Rare CFTR mutation 1525-1 G>A in a Pakistani patientWAHAB, Abdul; AL THANI, G; DAWOD, S. T et al.Journal of tropical pediatrics (1980). 2004, Vol 50, Num 2, pp 120-122, issn 0142-6338, 3 p.Article

Cystic fibrosis in a child from SyriaABDUL WAHAB, A; JANAHI, I. A; HEBI, S et al.Annals of tropical paediatrics. 2002, Vol 22, Num 1, pp 53-55, issn 0272-4936Article

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14HODGKINSON, C. A; BOHLEGA, S; ABU-AMERO, S. N et al.Neurology. 2002, Vol 59, Num 12, pp 1905-1909, issn 0028-3878, 5 p.Article

Segregation of the fragile X mutation from a male with a full mutation : Unusual somatic instability in the FMR-1 locusKAMBOURIS, M; SNOW, K; THIBODEAU, S et al.American journal of medical genetics. 1996, Vol 64, Num 2, pp 404-407, issn 0148-7299Article

Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)WAHAB, A. Abdul; AL THANI, G; DAWOD, S. T et al.Journal of tropical pediatrics (1980). 2001, Vol 47, Num 2, pp 110-112, issn 0142-6338Article

Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)BOHLEGA, S; KAMBOURIS, M; SHAHID, M et al.Neurology. 2000, Vol 54, Num 1, pp 261-263, issn 0028-3878Article

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populationsKAMBOURIS, M; BANJAR, H; MOGGARI, I et al.European journal of pediatrics. 2000, Vol 159, Num 5, pp 303-309, issn 0340-6199Article

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3KAMBOURIS, M; BOHLEGA, S; AL-TAHAN, A et al.American journal of human genetics. 2000, Vol 66, Num 2, pp 445-452, issn 0002-9297Article

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic : Evidence for an ancestral founder mutation and locus refinementDIAZ, G. A; GELB, B. D; ALI, F et al.American journal of medical genetics. 1999, Vol 85, Num 1, pp 48-52, issn 0148-7299Article

Autosomal dominant hyaline body myopathy: Clinical variability and pathologic findingsBOHLEGA, S; LACH, B; MEYER, B. F et al.Neurology. 2003, Vol 61, Num 11, pp 1519-1523, issn 0028-3878, 5 p.Article

Rapid extraction of fungal DNA from clinical samples for PCR amplificationVELEGRAKI, A; KAMBOURIS, M; KOSTOUROU, A et al.Medical mycology (Oxford. Print). 1999, Vol 37, Num 1, pp 69-73, issn 1369-3786Article

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiencyAL-JISHI, E; MEYER, B. F; RASHED, M. S et al.Clinical genetics. 1999, Vol 55, Num 6, pp 444-449, issn 0009-9163Article

Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypesSTEPHENS, J. C; REICH, D. E; GERRARD, B et al.American journal of human genetics. 1998, Vol 62, Num 6, pp 1507-1515, issn 0002-9297Article

Relationship of familial prominent corneal nervers and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2BDENNEHY, P. J; FELDMAN, G. L; KAMBOURIS, M et al.American journal of ophthalmology. 1995, Vol 120, Num 4, pp 456-461, issn 0002-9394Article

Cellular distribution of the RNA transcripts of a newly discovered gene in the brain of normal, weaver, Purkinje cell degeneration and reeler mutant mice as evidenced by in situ hydridization histochemistryKAMBOURIS, M; SANGAMESWARAN, L; DLOUHY, S. R et al.Molecular brain research. 1993, Vol 18, Num 4, pp 321-328, issn 0169-328XArticle

Sequences from the aspergillopepsin PEP gene of Aspergillus fumigatus : evidence on their use in selective PCR identification of Aspergillus species in infected clinical samplesKAMBOURIS, M. E; REICHARD, U; LEGAKIS, N. J et al.FEMS immunology and medical microbiology. 1999, Vol 25, Num 3, pp 255-264, issn 0928-8244Article

Identification of medically significant fungal genera by polymerase chain reaction followed by restriction enzyme analysisVELEGRAKI, A; KAMBOURIS, M. E; SKINIOTIS, G et al.FEMS immunology and medical microbiology. 1999, Vol 23, Num 4, pp 303-312, issn 0928-8244Article