Eissa Faqeih

Eissa Faqeih

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Eissa Faqeih

Publications by authors named "Eissa Faqeih"

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Further delineation of METTL23-associated intellectual disability.

Am J Med Genet A 2020 Feb 18. Epub 2020 Feb 18.

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.61503DOI Listing
February 2020

Streamlining and cycle time reduction of the startup phase of clinical trials.

Trials 2020 Jan 29;21(1):115. Epub 2020 Jan 29.

Research Center, King Fahad Medical City, P.O Box 59046, Riyadh, 11525, Saudi Arabia.

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http://dx.doi.org/10.1186/s13063-020-4079-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988200PMC
January 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 Jan 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 Nov 10;105(5):907-920. Epub 2019 Oct 10.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848997PMC
November 2019

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 07 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.008DOI Listing
July 2019

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 06 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

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical 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/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018

Congenital disorders of glycosylation: The Saudi experience.

Am J Med Genet A 2017 Oct 25;173(10):2614-2621. Epub 2017 Jul 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38358DOI Listing
October 2017

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

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

Eur J Med Genet 2017 Aug 26;60(8):416-420. Epub 2017 May 26.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.05.003DOI Listing
August 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

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

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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.

Genet Med 2017 05 6;19(5):593-598. Epub 2016 Oct 6.

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

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http://www.nature.com/doifinder/10.1038/gim.2016.155
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http://dx.doi.org/10.1038/gim.2016.155DOI Listing
May 2017

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

Familial pseudotail, scoliosis and synpolydactyly syndrome.

Eur Spine J 2016 05 2;25 Suppl 1:167-74. Epub 2015 Nov 2.

Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, PO Box 59046, Riyadh, 11525, Saudi Arabia.

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http://dx.doi.org/10.1007/s00586-015-4310-6DOI Listing
May 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

Crisponi/CISS1 syndrome: A case series.

Am J Med Genet A 2016 May 24;170A(5):1236-41. Epub 2016 Jan 24.

Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37569DOI Listing
May 2016

ADAT3-related intellectual disability: Further delineation of the phenotype.

Am J Med Genet A 2016 May 3;170A(5):1142-7. Epub 2016 Feb 3.

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37578DOI Listing
May 2016

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

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Orphanet J Rare Dis 2016 04 29;11(1):52. Epub 2016 Apr 29.

Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-04
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http://dx.doi.org/10.1186/s13023-016-0433-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685PMC
April 2016

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Am J Hum Genet 2016 Jan 17;98(1):210-5. Epub 2015 Dec 17.

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://www.cell.com/cms/attachment/2041209479/2055059602/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500484
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http://dx.doi.org/10.1016/j.ajhg.2015.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716667PMC
January 2016

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Ann Saudi Med 2014 Mar-Apr;34(2):107-14

Dr. Muhammad Faiyaz-Ul-Haque, Department of Pathology,, College of Medicine,, King Khaled University Hospital,, King Saud University, T: 966-11-4699377, F: +966-11-4672462,

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http://dx.doi.org/10.5144/0256-4947.2014.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074860PMC
November 2015

Identification of a novel MKS locus defined by TMEM107 mutation.

Hum Mol Genet 2015 Sep 29;24(18):5211-8. Epub 2015 Jun 29.

Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, 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/10.1093/hmg/ddv242DOI Listing
September 2015

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.

J Med Genet 2015 Jun 6;52(6):400-4. Epub 2015 Mar 6.

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/10.1136/jmedgenet-2014-102964DOI Listing
June 2015

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

Novel STAMBP mutation and additional findings in an Arabic family.

Am J Med Genet A 2015 Apr 18;167A(4):805-9. Epub 2015 Feb 18.

Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.36782DOI Listing
April 2015

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

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

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http://dx.doi.org/10.1093/hmg/ddu555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321448PMC
March 2015

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

J Med Genet 2015 Mar 24;52(3):186-94. Epub 2014 Dec 24.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102592DOI Listing
March 2015

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.

Cardiol Young 2015 Jan 6;25(1):81-6. Epub 2013 Nov 6.

1Department of Pediatric Cardiology,Prince Salman Heart Center,Riyadh,Saudi Arabia.

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http://dx.doi.org/10.1017/S1047951113001753DOI Listing
January 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

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; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Hum Mol Genet 2014 Dec 23;23(24):6584-93. Epub 2014 Jul 23.

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/10.1093/hmg/ddu384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240208PMC
December 2014

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Am J Med Genet A 2014 Jun 25;164A(6):1565-70. Epub 2014 Mar 25.

Section of Medical Genetic, Pediatric Department, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.36482DOI Listing
June 2014

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

Am J Hum Genet 2014 Jun 15;94(6):898-904. Epub 2014 May 15.

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.2014.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121479PMC
June 2014

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

J Pediatr 2014 Mar 8;164(3):553-9.e1-2. Epub 2013 Dec 8.

Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476130137
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http://dx.doi.org/10.1016/j.jpeds.2013.10.082DOI Listing
March 2014

Genomic analysis of primordial dwarfism reveals novel disease genes.

Genome Res 2014 Feb 3;24(2):291-9. Epub 2014 Jan 3.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;

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http://dx.doi.org/10.1101/gr.160572.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912419PMC
February 2014

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Neurogenetics 2013 Nov 23;14(3-4):243-5. Epub 2013 Jul 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10048-013-0367-8DOI Listing
November 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

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Am J Hum Genet 2013 Jan 3;92(1):157-61. Epub 2013 Jan 3.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542464PMC
January 2013

Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation.

J Pediatr Neurosci 2013 Jan;8(1):34-7

Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.4103/1817-1745.111420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680893PMC
January 2013

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

J Pediatr 2012 Jul 9;161(1):139-45.e1. Epub 2012 Feb 9.

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

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http://linkinghub.elsevier.com/retrieve/pii/S002234761200002
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http://dx.doi.org/10.1016/j.jpeds.2011.12.051DOI Listing
July 2012

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Am J Med Genet A 2012 Feb 13;158A(2):309-14. Epub 2012 Jan 13.

Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34406
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http://dx.doi.org/10.1002/ajmg.a.34406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264686PMC
February 2012

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Hum Mutat 2011 Jun 5;32(6):573-8. Epub 2011 May 5.

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

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http://dx.doi.org/10.1002/humu.21507DOI Listing
June 2011

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Am J Med Genet A 2011 Jun 12;155A(6):1448-52. Epub 2011 May 12.

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.34025DOI Listing
June 2011

Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

J Child Neurol 2009 Dec;24(12):1513-9

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia.

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http://journals.sagepub.com/doi/10.1177/0883073809341269
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http://dx.doi.org/10.1177/0883073809341269DOI Listing
December 2009

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.

Am J Med Genet A 2009 Mar;149A(3):461-5

Genetics Unit, Shriners Hospital for Children and McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32653DOI Listing
March 2009

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

J Bone Miner Metab 2008 1;26(6):648-52. Epub 2008 Nov 1.

Molecular Genetics Laboratory, Department of Pathology & Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, MBC #10, Riyadh, 11211, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00774-008-0853-5DOI Listing
December 2008

Localized acalvaria with craniosynostosis.

Clin Dysmorphol 2008 Jul;17(3):165-8

Department of Pediatrics, King Fahad Medical City, Children's Hospital, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1097/MCD.0b013e3282f4a10eDOI Listing
July 2008

A further case of micrognathia, aglossia, and situs inversus totalis with additional features.

Clin Dysmorphol 2008 Jul;17(3):219-20

Department of Pediatrics, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/MCD.0b013e3282f73731DOI Listing
July 2008

Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2006 Feb 27;831(1-2):274-80. Epub 2005 Dec 27.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Takhsussi Road, MBC-03, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jchromb.2005.12.010DOI Listing
February 2006