She Zaidi

发表

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

F. Al-Dayel, B. Bin-Abbas, I. Peltekova, 2009, Clinical genetics.

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

L. Tsui, A. Teebi, A. Eltohami, 2008, Clinical genetics.

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 genes

L. Tsui, T. Siddique, W. Ahmad, 2004, Clinical genetics.

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

H. Abalkhail, T. Shuaib, I. Peltekova, 2012, Clinical Genetics.

Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

L. Tsui, A. Teebi, W. Ahmad, 2002, Clinical genetics.

Mutations in the CHX10 gene in non‐syndromic microphthalmia/anophthalmia patients from Qatar

L. Tsui, A. Teebi, I. Peltekova, 2007, Clinical genetics.

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene

A. Teebi, I. Peltekova, M. Faiyaz-ul-Haque, 2009, Clinical genetics.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

L. Tsui, A. Lindinger, A. Teebi, 2004, Clinical genetics.

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

L. Tsui, W. Ahmad, M. Ahmad, 2004, Clinical genetics.