Publications by authors named "Shams Anazi"

13Publications

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Am J Med Genet A 2018 02 22;176(2):477-482. Epub 2017 Dec 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38568DOI Listing
February 2018

A null mutation in TNIK defines a novel locus for intellectual disability.

Hum Genet 2016 07 22;135(7):773-8. Epub 2016 Apr 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-016-1671-9DOI Listing
July 2016

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

Am J Hum Genet 2016 Apr 24;98(4):643-52. Epub 2016 Mar 24.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833216PMC
April 2016

Novel copy number variants and major limb reduction malformation: Report of three cases.

Am J Med Genet A 2016 May 8;170A(5):1245-50. Epub 2016 Jan 8.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37550DOI Listing
May 2016

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

J Med Genet 2015 May 12;52(5):317-21. Epub 2015 Feb 12.

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

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http://jmg.bmj.com/content/early/2015/02/12/jmedgenet-2014-1
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http://dx.doi.org/10.1136/jmedgenet-2014-102850DOI Listing
May 2015

The many faces of KIF7.

Hum Genome Var 2015 26;2:15006. Epub 2015 Feb 26.

Department of Genetics, King Faisal Specialist Hospital and Research Center, 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/10.1038/hgv.2015.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785560PMC
April 2016