Publications by authors named "Amira Nabil"

6Publications

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

Eur J Med Genet 2020 Jun 19;63(6):103917. Epub 2020 Mar 19.

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. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103917DOI Listing
June 2020

Joint laxity in homozygotes for severe POU1F1 mutations.

Am J Med Genet A 2016 Dec 19;170(12):3356-3358. Epub 2016 Aug 19.

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

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http://doi.wiley.com/10.1002/ajmg.a.37941
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http://dx.doi.org/10.1002/ajmg.a.37941DOI Listing
December 2016

On the phenotypic spectrum of serine biosynthesis defects.

J Inherit Metab Dis 2016 05 10;39(3):373-381. Epub 2016 Mar 10.

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

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http://dx.doi.org/10.1007/s10545-016-9921-5DOI Listing
May 2016

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

Eur J Pediatr 2015 Jan 3;174(1):105-12. Epub 2014 Oct 3.

Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt,

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http://dx.doi.org/10.1007/s00431-014-2429-9DOI Listing
January 2015