Publications by authors named "Nour Ewida"

18Publications

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.

Am J Med Genet A 2019 06 26;179(6):1053-1057. Epub 2019 Mar 26.

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.61133DOI Listing
June 2019

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Am J Hum Genet 2019 04 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, 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.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451727PMC
April 2019

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Am J Hum Genet 2018 10 27;103(4):612-620. Epub 2018 Sep 27.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286PMC
October 2018

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

Hum Genet 2016 10 8;135(10):1191-7. Epub 2016 Aug 8.

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

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http://dx.doi.org/10.1007/s00439-016-1722-2DOI Listing
October 2016

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

Hum Genet 2016 07 7;135(7):707-13. Epub 2016 Apr 7.

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

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http://dx.doi.org/10.1007/s00439-016-1665-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152754PMC
July 2016