Dania S. Khalil

发表

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

P. Bavi, Z. Abduljaleel, S. Bohlega, 2012, Human mutation.

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

S. Bohlega, N. Al Tassan, Jameela M A Shinwari, 2011, BMC Medical Genetics.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

S. Bohlega, M. Abouelhoda, D. Monies, 2016, BMC Research Notes.

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

Arif O. Khan, N. Al Tassan, Dania S. Khalil, 2010, Ophthalmology.

The Optic Nerve Head in Congenital Fibrosis of the Extraocular Muscles

A. Al-amri, Arif O. Khan, Aisha Omar, 2011, Ophthalmic genetics.

Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.

Arif O. Khan, N. Al Tassan, Jameela M A Shinwari, 2011, Archives of ophthalmology.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

S. Bohlega, M. Abouelhoda, D. Monies, 2016, BMC Research Notes.

Parkinson’s Disease in Saudi Patients: A Genetic Study

S. Bohlega, Asma I Tahir, N. Al Tassan, 2015, PloS one.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

J. Sayer, W. Kurdi, B. Meyer, 2016, Journal of Medical Genetics.

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

F. Alkuraya, P. Bavi, B. Meyer, 2009, American journal of human genetics.

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families

A. Al-amri, Arif O. Khan, M. Alanazi, 2011, Molecular vision.

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)

Arif O. Khan, N. Al Tassan, Jameela M A Shinwari, 2011, Molecular vision.

Congential Fibrosis of the Extraocular Muscles Type I (CFEOM1) on the Arabian Peninsula

Arif O. Khan, Nada Al-Tassan, Dania S. Khalil, 2008, Ophthalmic genetics.

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome

Arif O. Khan, N. Al Tassan, Jameela M A Shinwari, 2011, Molecular vision.