Bassam R Ali
机构: Professor of Molecular Genetics, College of Medicine, United Arab Emirates University
主页: uaeu.ac.ae
每年引用次数
引用次数
引用: 5,701
H-指数: 40
I10-指数 : 122
出版物: 221
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations
Alistair N. Hume , Anne John , Nadia A. Akawi , Aydah M. Al-Awadhi
Molecular and Cellular Biochemistry 373 ( 1-2) 247 -257
11
2013
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Nadia A. Akawi , Fuat E. Canpolat , Susan M. White , Josep Quilis‐Esquerra
Human Mutation 34 ( 3) 498 -505
13
2013
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Lihadh Al-Gazali , Bassam R. Ali
Human Mutation 31 ( 5) 505 -520
53
2010
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A
Salma Ben-Salem , Heidi L. Rehm , Patrick J. Willems , Zakaria A. Tamimi
Molecular Biology Reports 41 ( 1) 193 -200
7
2014
Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3‐M syndrome spectrum?
Nadia A. Akawi , Bassam R. Ali , Hanan Hamamy , Azmy Al-Hadidy
American Journal of Medical Genetics Part A 155 ( 6) 1236 -1245
23
2011
Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?
Lihadh Al-Gazali , Bedir Shather , Waleed Kaplan , Kais Algawi
American Journal of Medical Genetics Part A 149 ( 2) 251 -256
3
2009
Glutathione S-transferase from oxadiazon treated chickpea.
Abdelrahim A. Hunaiti , Bassam R. Ali
Phytochemistry 29 ( 8) 2431 -2435
21
1990
The induction of chickpea glutathione S-transferase by oxadiazon
Abdelrahim A. Hunaiti , Bassam R. Ali
Phytochemistry 30 ( 7) 2131 -2134
8
1991
Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.
Zeina N. Al-Mahayri , George P. Patrinos , Sukanya Wattanapokayakit , Nareenart Iemwimangsa
Scientific Reports 10 ( 1) 21310
2020
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Fedah E. Mohamed , Mohammad Al Sorkhy , Mohammad A. Ghattas , Nuha Al-Zaabi
Journal of Molecular Neuroscience 70 ( 1) 45 -55
2020
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities
Afif Ben-Mahmoud , Aisha M. Al-Shamsi , Bassam R. Ali , Lihadh Al-Gazali
Journal of Molecular Neuroscience 70 ( 3) 320 -327
3
2020
A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy
Salma Ben-Salem , Aisha M. Al-Shamsi , Anne John , Bassam R. Ali
Journal of Molecular Neuroscience 56 ( 1) 17 -23
29
2015
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
Makanko Komara , Aisha M. Al-Shamsi , Salma Ben-Salem , Bassam R. Ali
Journal of Molecular Neuroscience 57 ( 3) 393 -399
24
2015
Genomics and Pharmacogenomics Knowledge, Attitude and Practice of Pharmacists Working in United Arab Emirates: Findings from Focus Group Discussions—A Qualitative Study
Azhar T. Rahma , Iffat Elbarazi , Bassam R. Ali , George P. Patrinos
Journal of Personalized Medicine 10 ( 3) 134
2
2020
Knowledge, Attitudes, and Perceived Barriers toward Genetic Testing and Pharmacogenomics among Healthcare Workers in the United Arab Emirates: A Cross-Sectional Study.
Azhar T. Rahma , Mahanna Elsheik , Bassam R. Ali , Iffat Elbarazi
Journal of Personalized Medicine 10 ( 4) 216
1
2020
Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.
Hamdy Moselhy , Valsamma Eapen , Nadia A. Akawi , Ali Younis
Meta Gene 5 135 -139
10
2015
A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.
Jozef Hertecant , Makanko Komara , Aslam Nagi , Jehan Suleiman
Meta Gene 9 124 -127
10
2016
The possible threat of Zika virus in the Middle East
Abdessamad Tridane , Abdelmajid El Khajah , Bassam R. Ali
Travel Medicine and Infectious Disease 14 ( 3) 277 -278
2
2016
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum
Bassam R. Ali , Steve Jeffery , Neha Patel , Lorna E. Tinworth
Human Genetics 122 ( 3-4) 389 -395
31
2007
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
Reham M. Milhem , Lihadh Al-Gazali , Bassam R. Ali
The International Journal of Biochemistry & Cell Biology 60 119 -129
4
2015
lihadh al-gazali Joseph Gleeson Theodora Katsila Eyad Elkord harry gilbert Prof. Gary Black Ron Wevers Hudson Freeze Christopher A Walsh Edgar Otto, PhD Duarte Barral Jose Ramalho Angela Brand Adrián LLerena MD PhD Professor Clinical Pharmacology Diego Forero, MD, PhD Paul Laissue Prof Ambroise Wonkam, MD, DMedSc, PhD