Abdulrahman Alswaid

Abdulrahman Alswaid

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Abdulrahman Alswaid

Abdulrahman Alswaid

Publications by authors named "Abdulrahman Alswaid"

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26Publications

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Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

BMC Pediatr 2019 Jun 13;19(1):195. Epub 2019 Jun 13.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490 11426, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s12887-019-1571-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563377PMC
June 2019

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

J Child Neurol 2018 10 17;33(11):713-717. Epub 2018 Jul 17.

1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/0883073818786157DOI Listing
October 2018

Tetrasomy 18p: case report and review of literature.

Appl Clin Genet 2018 8;11:9-14. Epub 2018 Feb 8.

Developmental Medicine Department, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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https://www.dovepress.com/tetrasomy-18p-case-report-and-revi
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http://dx.doi.org/10.2147/TACG.S153469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811181PMC
February 2018

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

JIMD Rep 2018 5;40:47-53. Epub 2017 Oct 5.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/8904_2017_58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122013PMC
October 2017

Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.

Int J Cardiol 2014 Mar 11;172(1):276-7. Epub 2014 Jan 11.

Service de Cardiologie, CHUV, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ijcard.2013.12.242DOI Listing
March 2014

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.

Am J Med Genet A 2013 Dec 16;161A(12):3155-60. Epub 2013 Aug 16.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.36160DOI Listing
December 2013

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Am J Med Genet A 2013 Sep 29;161A(9):2244-9. Epub 2013 Jul 29.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36073DOI Listing
September 2013

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Genet Med 2012 Dec 30;14(12):955-62. Epub 2012 Aug 30.

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

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http://dx.doi.org/10.1038/gim.2012.86DOI Listing
December 2012

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Am J Med Genet A 2003 Dec;123A(2):204-7

Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.20289
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http://dx.doi.org/10.1002/ajmg.a.20289DOI Listing
December 2003

Searching for evidence of DFNB2.

Am J Med Genet 2002 May;109(4):291-7

Gene Marker Laboratory, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA.

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http://doi.wiley.com/10.1002/ajmg.10384
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http://dx.doi.org/10.1002/ajmg.10384DOI Listing
May 2002

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Hum Genet 2002 Apr 13;110(4):366-70. Epub 2002 Mar 13.

Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1007/s00439-002-0689-3DOI Listing
April 2002