Salma Ben-Salem
Salma Ben-Salem
Postdoctoral fellow, LRI, Cleveland Clinic Foundation
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα ccf.org - Αρχική σελίδα
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Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1282012
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
KS Nair, M Hmani-Aifa, Z Ali, AL Kearney, SB Salem, DG Macalinao, ...
Nature genetics 43 (6), 579-584, 2011
842011
METTL23, a transcriptional partner of GABPA, is essential for human cognition
RE Reiff, BR Ali, B Baron, TW Yu, S Ben-Salem, ME Coulter, CR Schubert, ...
Human molecular genetics 23 (13), 3456-3466, 2014
352014
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
S Ben-Salem, JG Gleeson, AM Al-Shamsi, B Islam, J Hertecant, BR Ali, ...
Metabolic brain disease 30 (3), 687-694, 2015
332015
A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy
S Ben-Salem, AM Al-Shamsi, A John, BR Ali, L Al-Gazali
Journal of Molecular Neuroscience 56 (1), 17-23, 2015
332015
A novel single-nucleotide deletion (c. 1020delA) in NSUN2 causes intellectual disability in an Emirati child
M Komara, AM Al-Shamsi, S Ben-Salem, BR Ali, L Al-Gazali
Journal of Molecular Neuroscience 57 (3), 393-399, 2015
312015
Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy
RM Milhem, S Ben-Salem, L Al-Gazali, BR Ali
Investigative ophthalmology & visual science 55 (6), 3423-3431, 2014
292014
A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer
S Liu, S Kumari, Q Hu, D Senapati, VB Venkadakrishnan, D Wang, ...
Elife 6, e28482, 2017
252017
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37. 1
M Hmani-Aifa, SB Salem, Z Benzina, W Bouassida, R Messaoud, K Turki, ...
Human genetics 126 (4), 575, 2009
252009
Mutation spectrum of Joubert syndrome and related disorders among Arabs
S Ben-Salem, AM Al-Shamsi, JG Gleeson, BR Ali, L Al-Gazali
Human genome variation 1 (1), 1-10, 2014
232014
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene
JL Hertecant, I Ben-Rebeh, MA Marah, T Abbas, L Ayadi, SB Salem, ...
European journal of medical genetics 55 (12), 671-676, 2012
202012
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
NA Akawi, S Ben-Salem, J Hertecant, A John, T Pramathan, ...
Orphanet journal of rare diseases 11 (1), 139, 2016
182016
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c. 1059_1066insC mutation of the PRSS56 gene
MB Said, E Chouchène, SB Salem, K Daoud, L Largueche, W Bouassida, ...
Gene 528 (2), 288-294, 2013
172013
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
S Ben‐Salem, N Sobreira, NA Akawi, AM Al‐Shamsi, A John, ...
American Journal of Medical Genetics Part A 170 (1), 156-161, 2016
162016
A novel aberrant splice site mutation in RAB23 leads to an eight nucleotide deletion in the mRNA and is responsible for carpenter syndrome in a consanguineous emirati family
S Ben-Salem, MA Begum, BR Ali, L Al-Gazali
Molecular syndromology 3 (6), 255-261, 2012
152012
Determination of the CCR5∆ 32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis
SA Al-Jaberi, S Ben-Salem, M Messedi, F Ayadi, L Al-Gazali, BR Ali
Gene 529 (1), 113-118, 2013
112013
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability
AM Al-Shamsi, S Ben-Salem, J Hertecant, F Al-Jasmi
European Journal of Pediatrics 174 (5), 661-668, 2015
92015
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A
S Ben-Salem, HL Rehm, PJ Willems, ZA Tamimi, H Ayadi, BR Ali, ...
Molecular biology reports 41 (1), 193-200, 2014
92014
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
S Ben‐Salem, J Hertecant, AM Al‐Shamsi, BR Ali, L Al‐Gazali
Birth Defects Research Part A: Clinical and Molecular Teratology 97 (12 …, 2013
72013
A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some …
A Ben‐Mahmoud, S Ben‐Salem, M Al‐Sorkhy, A John, BR Ali, L Al‐Gazali
Clinical genetics 93 (6), 1148-1158, 2018
62018
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