Salah A Elmalik

Salah A Elmalik

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Salah A Elmalik

Salah A Elmalik

Publications by authors named "Salah A Elmalik"

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C19orf12 mutation leads to a pallido-pyramidal syndrome.

Gene 2014 Mar 17;537(2):352-6. Epub 2013 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2013.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422067PMC
March 2014

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Am J Med Genet A 2013 Jun 30;161A(6):1207-13. Epub 2013 Apr 30.

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.35850DOI Listing
June 2013

The neurology of carbonic anhydrase type II deficiency syndrome.

Brain 2011 Dec 26;134(Pt 12):3502-15. Epub 2011 Nov 26.

Department of Ophthalmology and Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1093/brain/awr302DOI Listing
December 2011

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Brain 2010 Aug;133(Pt 8):2439-47

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, et Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1093/brain/awq181DOI Listing
August 2010

Ophthalmic features of Joubert syndrome.

Ophthalmology 2008 Dec;115(12):2286-9

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1016/j.ophtha.2008.08.005DOI Listing
December 2008