Results 1 to 10 of 10
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TypeTitleAuthor(s)YearViews
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
Journal:
Atherosclerosis
Publisher:
Elsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/atherosclerosis
FaiyazUlHaque, M; Zaidi, SHE; AlSanna, N; Alswaid, A; Momenah, T; Kaya, N; AlDayel, F; Bouhoaigah, I; Saliem, M; Tsui, LC; Teebi, AS2009463
 
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
FaiyazulHaque, M; Zaidi, SHE; Wahab, AA; Eltohami, A; AlMureikhi, MS; AlThani, G; Peltekova, VD; Tsui, LC; Teebi, AS2008194
 
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [5]
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
FaiyazUlHaque, M; Zaidi, SHE; AlMureikhi, MS; Peltekova, I; Tsui, LC; Teebi, AS2007190
 
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Zaidi, SHE; Peltekova, V; Meyer, S; Lindinger, A; Paterson, AD; Tsui, LC; FaiyazUlHaque, M; Teebi, AS2005629
 
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type
Journal:
American Journal of Medical Genetics
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
FaiyazUlHaque, M; Zaidi, SHE; AlAli, M; AlMureikhi, MS; Kennedy, S; AlThani, G; Tsui, LC; Teebi, AS2004734
 
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Lo, B; FaiyazUlHaque, M; Banwell, B; Blaser, S; Paterson, AD; Tsui, LC; Teebi, AS2004670
 
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism
Journal:
American Journal of Medical Genetics
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Lo, B; FaiyazUlHaque, M; Kennedy, S; Aviv, R; Tsui, LC; Teebi, AS2003469
 
A novel homozygous recessive mutation in the galactosyltransferase-I (B4GALT7) gene in individuals resembling the progeroid type of Ehlers-Danlos syndrome
Publisher:
University of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHG
Ul haque, MF; Teebi, AS; Al-ali, M; Al-mureikhi, MS; Kennedy, S; Al-thani, G; Zaidi, SHE; Tsui, L-C2003317
 
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia
Journal:
American Journal of Medical Genetics
Publisher:
John Wiley & Sons, Inc.
FaiyazUlHaque, M; Ahmad, W; Wahab, A; Haque, S; Azim, AC; Zaidi, SHE; Teebi, AS; Ahmad, M; Cohn, DH; Siddique, T; Tsui, LC2002319
 
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
FaiyazUlHaque, M; Ahmad, W; Zaidi, SHE; Haque, S; Teebi, AS; Ahmad, M; Cohn, DH; Tsui, LC2002195
 
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