15 results for author:"Faiyaz-Ul-Haque M." in Literature citations
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| Genetics of glucose-6-phosphate dehydrogenase deficiency in Saudi patients. Faiyaz-Ul-Haque M., Zaidi S.H., Hasanato R.M., Al-Abdullatif A., Cluntun A., Teresita G., Toulimat M., Al-Nounou R., Al-Dayel F., Peltekova I. et al. Clin. Genet. 78:98-100(2010) · Mapped (7) |
| A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). Faiyaz-Ul-Haque M., Al-Jefri A., Abalkhail H.A., Toulimat M., Al-Muallimi M.A., Pulicat M.S., Gaafar A., Alaiya A.A., Al-Dayel F., Peltekova I. et al. |
| Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema. Faiyaz-Ul-Haque M., Al-Gazlan S., Abalkhail H.A., Al-Abdulatif A., Toulimat M., Peltekova I., Khaliq A.M., Al-Dayel F., Zaidi S.H. Int. Arch. Allergy Immunol. 151:149-154(2010) · Mapped (6) |
| Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. Faiyaz-Ul-Haque M., Al-Owain M., Al-Dayel F., Al-Hassnan Z., Al-Zaidan H., Rahbeeni Z., Al-Sayed M., Balobaid A., Cluntun A., Toulimat M. et al. Eur. J. Pediatr. 168:1467-1471(2009) · Mapped (3) |
| Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. Faiyaz-Ul-Haque M., Faqeih E.A., Al-Zaidan H., Al-Shammary A., Zaidi S.H. J. Bone Miner. Metab. 26:648-652(2008) · Mapped (3) |
| A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. Zaidi S.H., Meyer S., Peltekova V.D., Lindinger A., Teebi A.S., Faiyaz-Ul-Haque M. Eur. J. Pediatr. 168:867-870(2009) · Mapped (4) |
| A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Faiyaz-Ul-Haque M., Zaidi S.H., Al-Sanna N., Alswaid A., Momenah T., Kaya N., Al-Dayel F., Bouhoaigah I., Saliem M., Tsui L.C. et al. Atherosclerosis 203:466-471(2009) · Mapped (4) |
| Profound biotinidase deficiency in a child with predominantly spinal cord disease. Chedrawi A.K., Ali A., Al Hassnan Z.N., Faiyaz-Ul-Haque M., Wolf B. J. Child Neurol. 23:1043-1048(2008) · Mapped (4) |
| Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Faiyaz-Ul-Haque M., Zaidi S.H., Wahab A.A., Eltohami A., Al-Mureikhi M.S., Al-Thani G., Peltekova V.D., Tsui L.C., Teebi A.S. Clin. Genet. 74:189-193(2008) · Mapped (4) |
| Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Faiyaz-Ul-Haque M., Zaidi S.H., Al-Mureikhi M.S., Peltekova I., Tsui L.C., Teebi A.S. Clin. Genet. 72:164-166(2007) · Mapped (1) |
| Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). Seidler D.G., Faiyaz-Ul-Haque M., Hansen U., Yip G.W., Zaidi S.H., Teebi A.S., Kiesel L., Gotte M. J. Mol. Med. 84:583-594(2006) · Mapped (5) |
| A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. Rafiq M.A., Ansar M., Mahmood S., Haque S., Faiyaz-ul-Haque M., Leal S.M., Ahmad W. J. Invest. Dermatol. 123:247-248(2004) · UniProtKB (1) · Mapped (3) |
| Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.-C., Teebi A.S. Am. J. Med. Genet. A 121:37-40(2003) · UniProtKB (1) |
| Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Faiyaz-Ul-Haque M., Ahmad W., Wahab A., Haque S., Azim A.C., Zaidi S.H., Teebi A.S., Ahmad M., Cohn D.H., Siddique T. et al. Am. J. Med. Genet. 111:31-37(2002) · Mapped (3) |
| Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Faiyaz-Ul-Haque M., Ahmad W., Zaidi S.H.E., Haque S., Teebi A.S., Ahmad M., Cohn D.H., Tsui L.-C. |