Results 1 to 10 of 10
Page 1 of 1
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndromeFaiyazUlHaque, M; Zaidi, SHE; AlSanna, N; Alswaid, A; Momenah, T; Kaya, N; AlDayel, F; Bouhoaigah, I; Saliem, M; Tsui, LC; Teebi, AS2009390
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [5]FaiyazUlHaque, M; Zaidi, SHE; AlMureikhi, MS; Peltekova, I; Tsui, LC; Teebi, AS2007125
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13Zaidi, SHE; Peltekova, V; Meyer, S; Lindinger, A; Paterson, AD; Tsui, LC; FaiyazUlHaque, M; Teebi, AS2005556
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genesFaiyazUlHaque, M; Zaidi, SHE; King, LM; Haque, S; Patel, M; Ahmad, M; Siddique, T; Ahmad, W; Tsui, LC; Cohn, DH2005887
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid typeFaiyazUlHaque, M; Zaidi, SHE; AlAli, M; AlMureikhi, MS; Kennedy, S; AlThani, G; Tsui, LC; Teebi, AS2004682
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)FaiyazUlHaque, M; Ahmad, W; Zaidi, SHE; Hussain, S; Haque, S; Ahmad, M; Cohn, DH; Tsui, LC2004679
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23Lo, B; FaiyazUlHaque, M; Banwell, B; Blaser, S; Paterson, AD; Tsui, LC; Teebi, AS2004619
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubismLo, B; FaiyazUlHaque, M; Kennedy, S; Aviv, R; Tsui, LC; Teebi, AS2003434
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaFaiyazUlHaque, M; Ahmad, W; Wahab, A; Haque, S; Azim, AC; Zaidi, SHE; Teebi, AS; Ahmad, M; Cohn, DH; Siddique, T; Tsui, LC2002259
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)FaiyazUlHaque, M; Ahmad, W; Zaidi, SHE; Haque, S; Teebi, AS; Ahmad, M; Cohn, DH; Tsui, LC2002145
Page 1 of 1
Export Records
Step 1: Select content and export format
  • Citation only
Step 2: Select export method
  • Download