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

Clinical genetics, 2018-12, Vol.94 (6), p.586-587

2018

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Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

Clinical genetics, 2022-04, Vol.101 (4), p.403-410

2022

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

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1257-1263

2017

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human genetics, 2017-04, Vol.136 (4), p.377-386

2017

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Targeted disruption of the galectin-3 gene results in decreased susceptibility to multiple low dose streptozotocin-induced diabetes in mice

Clinical immunology (Orlando, Fla. Print), 2009-01, Vol.130 (1), p.83-88

2009

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Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

Clinical genetics, 2018-05, Vol.93 (5), p.1087-1092

2018

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

Metabolic brain disease, 2015-06, Vol.30 (3), p.687-694

2015

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

BMC medical genetics, 2018-03, Vol.19 (1), p.34-34, Article 34

2018

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

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.156-161

2016

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

Journal of dermatology, 2015-08, Vol.42 (8), p.821-822

2015

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Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human genetics, 2017-08, Vol.136 (8), p.1009-1011

2017

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

Birth defects research. A Clinical and molecular teratology, 2013-12, Vol.97 (12), p.764-769

2013

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A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.17-23

2015

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Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Journal of molecular neuroscience, 2020-03, Vol.70 (3), p.320-327

2020

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Disaster risk reduction in Iraq

Jamba, 2019, Vol.11 (1), p.1-3

Al-Shamsi, Mustafa T.M.

2019

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New Members of the Interleukin-12 Family of Cytokines: IL-23 and IL-27 Modulate Autoimmune Diabetes

Annals of the New York Academy of Sciences, 2006-10, Vol.1079 (1), p.157-160

2006

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

Journal of molecular neuroscience, 2015-11, Vol.57 (3), p.393-399

2015

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Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

Journal of pediatric genetics (Birmingham, Ala.), 2024-09, Vol.13 (3), p.215-222

2024

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A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.17-23

2015

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Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

European journal of pediatrics, 2015-05, Vol.174 (5), p.661-668

2015

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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Journal of medical genetics, 2018-02, Vol.55 (2), p.122-130

2018

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The Emirates Mars Mission

Space science reviews, 2022, Vol.218 (1), p.4-4, Article 4

2022

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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine, 2024-09, Vol.107, p.105297, Article 105297

2024

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

Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.87-87, Article 87

2013

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

Child's nervous system, 2014-07, Vol.30 (7), p.1183-1189

2014

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

Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

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

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Targeted disruption of the galectin-3 gene results in decreased susceptibility to multiple low dose streptozotocin-induced diabetes in mice

Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

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

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

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

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

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

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

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Disaster risk reduction in Iraq

New Members of the Interleukin-12 Family of Cytokines: IL-23 and IL-27 Modulate Autoimmune Diabetes

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

Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

The Emirates Mars Mission

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

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

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

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