Lihadh Al-Gazali

Lihadh Al-Gazali

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Lihadh Al-Gazali

Lihadh Al-Gazali

Publications by authors named "Lihadh Al-Gazali"

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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Mol Genet Genomic Med 2019 Sep 7:e969. Epub 2019 Sep 7.

Division of Endocrinology, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/mgg3.969DOI Listing
September 2019

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

J Mol Neurosci 2019 Aug 29. Epub 2019 Aug 29.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box: 17666, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/s12031-019-01398-6DOI Listing
August 2019

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in .

Mol Syndromol 2019 May 6;10(3):171-176. Epub 2019 Mar 6.

Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.

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http://dx.doi.org/10.1159/000497337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528082PMC
May 2019

variants as significant predictors of warfarin dose in Emiratis.

Pharmgenomics Pers Med 2019 17;12:47-57. Epub 2019 Apr 17.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.2147/PGPM.S187350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489578PMC
April 2019

A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.

Clin Genet 2018 12 11;94(6):586-587. Epub 2018 Oct 11.

College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/cge.13443
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http://dx.doi.org/10.1111/cge.13443DOI Listing
December 2018

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Am J Med Genet A 2018 09 28;176(9):1996-2003. Epub 2018 Jul 28.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.40424DOI Listing
September 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

BMC Med Genet 2018 03 2;19(1):34. Epub 2018 Mar 2.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834892PMC
March 2018

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.

Sci Rep 2018 01 25;8(1):1583. Epub 2018 Jan 25.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates.

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http://dx.doi.org/10.1038/s41598-017-19053-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785505PMC
January 2018

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

Am J Med Genet A 2017 Jul 30;173(7):1773-1781. Epub 2017 Apr 30.

Department of Paediatrics, College of Medicine and Health Sciences, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.38244DOI Listing
July 2017

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Front Pharmacol 2017 7;8:448. Epub 2017 Jul 7.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates UniversityAl Ain, United Arab Emirates.

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http://dx.doi.org/10.3389/fphar.2017.00448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500627PMC
July 2017

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Am J Med Genet A 2017 May 21;173(5):1257-1263. Epub 2017 Mar 21.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.38153DOI Listing
May 2017

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Am J Hum Genet 2017 May 20;100(5):824-830. Epub 2017 Apr 20.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173011
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http://dx.doi.org/10.1016/j.ajhg.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420346PMC
May 2017

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Eur J Med Genet 2017 Apr 24;60(4):212-216. Epub 2017 Jan 24.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.004DOI Listing
April 2017

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.

Orphanet J Rare Dis 2016 10 21;11(1):139. Epub 2016 Oct 21.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s13023-016-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073853PMC
October 2016

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.

Meta Gene 2016 Sep 18;9:124-7. Epub 2016 May 18.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/j.mgene.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908276PMC
September 2016

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

Am J Med Genet A 2016 08 17;170(8):2111-8. Epub 2016 May 17.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.37741DOI Listing
August 2016

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Hum Genome Var 2014 6;1:14020. Epub 2014 Nov 6.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University , Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1038/hgv.2014.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785524PMC
April 2016

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Am J Med Genet A 2016 Feb 5;170A(2):540-543. Epub 2015 Oct 5.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37421
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http://dx.doi.org/10.1002/ajmg.a.37421DOI Listing
February 2016

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Am J Med Genet A 2016 Jan 23;170A(1):156-61. Epub 2015 Sep 23.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37405
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http://dx.doi.org/10.1002/ajmg.a.37405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448135PMC
January 2016

An integrative computational approach for prioritization of genomic variants.

PLoS One 2014 15;9(12):e114903. Epub 2014 Dec 15.

Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America; Computation Institute, University of Chicago/Argonne National Laboratory, Chicago, Illinois, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266634PMC
November 2015

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

J Mol Neurosci 2015 Nov 9;57(3):393-9. Epub 2015 Jun 9.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/s12031-015-0592-8DOI Listing
November 2015

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

J Dermatol 2015 Aug 11;42(8):821-2. Epub 2015 May 11.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/1346-8138.12917
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http://dx.doi.org/10.1111/1346-8138.12917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704090PMC
August 2015

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Metab Brain Dis 2015 Jun 17;30(3):687-94. Epub 2014 Sep 17.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s11011-014-9618-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915861PMC
June 2015

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

J Mol Neurosci 2015 May 18;56(1):17-23. Epub 2014 Nov 18.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://link.springer.com/10.1007/s12031-014-0463-8
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http://dx.doi.org/10.1007/s12031-014-0463-8DOI Listing
May 2015

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

Gene 2015 Apr 14;561(1):148-56. Epub 2015 Feb 14.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.02.038DOI Listing
April 2015

Consanguinity and dysmorphology in Arabs.

Hum Hered 2014 29;77(1-4):93-107. Epub 2014 Jul 29.

Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1159/000360421DOI Listing
March 2015

Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.

Int J Biochem Cell Biol 2015 Mar 3;60:119-29. Epub 2015 Jan 3.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2014.12.015DOI Listing
March 2015

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.

Biochim Biophys Acta 2014 Dec 27;1843(12):2871-7. Epub 2014 Aug 27.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01674889140031
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http://dx.doi.org/10.1016/j.bbamcr.2014.08.013DOI Listing
December 2014

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Hum Genet 2014 Sep 7;133(9):1161-7. Epub 2014 Jun 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1007/s00439-014-1456-yDOI Listing
September 2014

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

Childs Nerv Syst 2014 Jul 11;30(7):1183-9. Epub 2014 Jan 11.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s00381-013-2352-9DOI Listing
July 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Hum Mol Genet 2014 Jul 5;23(13):3456-66. Epub 2014 Feb 5.

Division of Genetics and Genomics, Department of Medicine Manton Center for Orphan Disease Research and Department of Pediatrics Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049305PMC
July 2014

Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.

Pediatr Neurol 2014 Jul 22;51(1):165-9. Epub 2014 Mar 22.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.012DOI Listing
July 2014

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

Invest Ophthalmol Vis Sci 2014 Apr 17;55(6):3423-31. Epub 2014 Apr 17.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.14-13885DOI Listing
April 2014

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Mol Biol Rep 2014 Jan 6;41(1):193-200. Epub 2013 Nov 6.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates,

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http://link.springer.com/10.1007/s11033-013-2851-5
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http://dx.doi.org/10.1007/s11033-013-2851-5DOI Listing
January 2014

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Birth Defects Res A Clin Mol Teratol 2013 Dec 6;97(12):764-9. Epub 2013 Sep 6.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University.

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http://dx.doi.org/10.1002/bdra.23170DOI Listing
December 2013

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

Gene 2013 Oct 9;529(1):113-8. Epub 2013 Aug 9.

Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.07.062DOI Listing
October 2013

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

Birth Defects Res A Clin Mol Teratol 2013 Jul 20;97(7):456-62. Epub 2013 May 20.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/bdra.23136DOI Listing
July 2013

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Orphanet J Rare Dis 2013 Jun 17;8:87. Epub 2013 Jun 17.

Department of Pathology, College of Medicine and Health Sciences United Arab Emirates University, P,O, Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/1750-1172-8-87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847167PMC
June 2013

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.

Pediatr Neurol 2013 Jan;48(1):63-6

Division of Neurology, Department of Pediatrics, Tawam Hospital, Al-Ain, Abu Dhabi, United Arab Emirates.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994120044
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http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.012DOI Listing
January 2013

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

BMC Med Genet 2012 Sep 14;13:80. Epub 2012 Sep 14.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-13-80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495048PMC
September 2012

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.

Birth Defects Res A Clin Mol Teratol 2012 Jul 8;94(7):553-6. Epub 2012 Jun 8.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/bdra.23031DOI Listing
July 2012

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

J Med Genet 2012 Jun 10;49(6):380-5. Epub 2012 May 10.

Department of Neurosciences and Pediatrics, Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA.

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http://dx.doi.org/10.1136/jmedgenet-2011-100686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771841PMC
June 2012

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Genet Test Mol Biomarkers 2012 May 22;16(5):366-71. Epub 2011 Nov 22.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1089/gtmb.2011.0175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3354585PMC
May 2012

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Orphanet J Rare Dis 2012 May 15;7:27. Epub 2012 May 15.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, P,O, Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/1750-1172-7-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492204PMC
May 2012

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Am J Med Genet A 2011 Jun 5;155A(6):1236-45. Epub 2011 May 5.

Faculty of Medicine and Health Sciences, Department of Pathology, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.34009DOI Listing
June 2011

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Saudi Med J 2011 Apr;32(4):353-9

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates.

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April 2011

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.

J Med Genet 2011 Feb 26;48(2):131-5. Epub 2010 Oct 26.

Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1136/jmg.2010.081455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030776PMC
February 2011

Genome-sequencing anniversary. Human genome sequencing: celebrating 10 years.

Authors:
Lihadh Al-Gazali

Science 2011 Feb;331(6019):873

Department of Pediatrics, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1126/science.1203266DOI Listing
February 2011

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Am J Hum Genet 2010 Aug;87(2):289-96

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917720PMC
August 2010