A. R. Hamzeh

发表

Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

F. Bastaki, S. Bizzari, S. Hamici, 2018, Annals of human genetics.

Association of HLA-DQA1 and -DQB1 alleles with type I diabetes in Arabs: a meta-analyses.

P. Nair, A. R. Hamzeh, N. Al-khaja, 2015, Tissue antigens.

Novel SPG20 mutation in an extended family with Troyer syndrome

F. Bastaki, S. Bizzari, P. Nair, 2017, Metabolic Brain Disease.

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

S. Bizzari, P. Nair, M. Al-Ali, 2016, Journal of Translational Medicine.

The profile of HLA‐DRB1 alleles in Arabs with type 1 diabetes; meta‐analyses

P. Nair, A. R. Hamzeh, M. T. Al Ali, 2016, Tissue antigens.

No association between Val158Met of the COMT gene and susceptibility to schizophrenia in the Syrian population

A. Alachkar, H. Alhaj, A. R. Hamzeh, 2011, North American journal of medical sciences.

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child

F. Bastaki, P. Nair, M. Mohamed, 2017, Medical Principles and Practice.

Allele Frequencies of the Epidermal Growth Factor Receptors Polymorphism R521K in Colorectal Cancer Patients and Healthy Subjects Indicate a Risk-Reducing Effect of K521 in Syrian Population

A. Alachkar, A. R. Hamzeh, N. Akil, 2013, North American journal of medical sciences.

First report on class 1 integrons and Trimethoprim-resistance genes from dfrA group in uropathogenic E. coli (UPEC) from the Aleppo area in Syria

A. R. Hamzeh, Maysa Mahfoud, Bodour Al-Assil, 2013, Mobile genetic elements.

Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1

T. Andrews, S. Turner, J. McCluskey, 2020, Science Immunology.

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

F. Bastaki, P. Nair, M. Mohamed, 2017, BMC Pediatrics.

Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.

T. Andrews, A. R. Hamzeh, M. Field, 2021, Methods in molecular biology.

Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium

L. Kricka, P. Fortina, F. Innocenti, 2014, Human mutation.

Genetic Disorders in Saudi Arabia: A CTGA Perspective

S. Bizzari, P. Nair, A. R. Hamzeh, 2018 .

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.

F. Bastaki, P. Nair, M. Mohamed, 2016, Molecular and cellular probes.

Novel splice‐site mutation in WDR62 revealed by whole‐exome sequencing in a Sudanese family with primary microcephaly

F. Bastaki, P. Nair, M. Mohamed, 2016, Congenital anomalies.

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates

F. Bastaki, S. Bizzari, P. Nair, 2017, International journal of dermatology.

Resistance trends and risk factors of extended spectrum β-lactamases in Escherichia coli infections in Aleppo, Syria.

A. R. Hamzeh, Maysa Mahfoud, Bodour Al-Assil, 2013, American journal of infection control.

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome

F. Bastaki, F. Saif, A. R. Hamzeh, 2016, Saudi medical journal.

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia

F. Bastaki, P. Nair, M. Mohamed, 2017, Irish Journal of Medical Science (1971 -).

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)

F. Bastaki, P. Nair, M. Mohamed, 2018, Metabolic Brain Disease.

Catechol-O-methyltransferase Val 108/158 Met polymorphism and breast cancer risk: a case control study in Syria

A. Al Moustafa, A. Alachkar, A. R. Hamzeh, 2011, Breast Cancer.

Multidrug resistance in Pseudomonas aeruginosa isolated from nosocomial respiratory and urinary infections in Aleppo, Syria.

A. R. Hamzeh, Maysa Mahfoud, M. Al Najjar, 2015, Journal of infection in developing countries.

Prenatal one-carbon metabolism dysregulation programs schizophrenia-like deficits

Z. Wang, X. Xu, L. Wang, 2018, Molecular Psychiatry.

Melanin Concentrating Hormone Signaling Deficits in Schizophrenia: Association With Memory and Social Impairments and Abnormal Sensorimotor Gating

M. Vawter, O. Civelli, Anton Schulmann, 2019, The international journal of neuropsychopharmacology.

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation

F. Bastaki, P. Nair, M. Mohamed, 2016, American journal of medical genetics. Part A.

Prevalence of antibiotic resistance among Acinetobacter baumannii isolates from Aleppo, Syria.

A. R. Hamzeh, Maysa Mahfoud, M. Al Najjar, 2012, American journal of infection control.

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome

F. Bastaki, S. Bizzari, P. Nair, 2017, Pediatrics international : official journal of the Japan Pediatric Society.

Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis

F. Bastaki, P. Nair, M. Mohamed, 2016, Metabolic Brain Disease.

Expanded PCH1D phenotype linked to EXOSC9 mutation.

F. Bastaki, S. Bizzari, M. Mohamed, 2019, European journal of medical genetics.

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

F. Bastaki, P. Nair, M. Mohamed, 2017, BMC Medical Genetics.

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

F. Bastaki, P. Nair, M. Mohamed, 2016, European journal of medical genetics.

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region

F. Bastaki, P. Nair, M. Mohamed, 2016, Medical Principles and Practice.

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa

F. Bastaki, P. Nair, E. M. Malik, 2017, Oman journal of ophthalmology.

Meta‐analyses of the association of HLA‐DRB1 alleles with rheumatoid arthritis among Arabs

S. Bizzari, P. Nair, A. R. Hamzeh, 2017, International journal of rheumatic diseases.

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates

F. Bastaki, P. Nair, M. Mohamed, 2016, Hormone Research in Paediatrics.

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis

F. Bastaki, P. Nair, M. Mohamed, 2016, Metabolic Brain Disease.

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

F. Bastaki, P. Nair, M. Mohamed, 2016, European journal of medical genetics.

Association of Myoinositol Transporters with Schizophrenia and Bipolar Disorder: Evidence from Human and Animal Studies

M. Vawter, O. Civelli, G. Abbott, 2019, Molecular Neuropsychiatry.

Genotype Distribution of the Single Nucleotide PolymorphismVal158Met of the COMT Gene in the Syrian Population

A. Alachkar, A. R. Hamzeh, A. Sakur, 2010 .