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American Journal of Medical Genetics. Part A
|
May 18, 2016
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene
Nadia Akawi, Salma Ben-Salem, Laura Lahti, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
September 10, 2013
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
Salma Ben-Salem, Jozef Hertecant, Aisha M Al-Shamsi, et al.
Human Genomics
|
September 2, 2022
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Sally Badawi, Feda E Mohamed, Nesreen R Alkhofash, et al.
Journal of Pediatric Genetics
|
August 1, 2024
Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature
Hanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, et al.
Journal of Molecular Neuroscience : MN
|
November 19, 2014
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, et al.
Human Genomics
|
January 4, 2024
The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population
Lubna Q Khasawneh, Habiba Alsafar, Hiba Alblooshi, et al.
Frontiers in Immunology
|
June 13, 2017
Intratumoral FoxP3<sup>+</sup>Helios<sup>+</sup> Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer
Azharuddin Sajid Syed Khaja, Salman M Toor, Haytham El Salhat, et al.
BMC Medical Genetics
|
September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Journal of Molecular Neuroscience : MN
|
June 10, 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, et al.
Clinical Epigenetics
|
July 10, 2018
DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary breast cancer
Varun Sasidharan Nair, Haytham El Salhat, Rowaida Z Taha, et al.
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Search research articles
Search
Showing results (61-70 of 173) with videos related to
Sort By:
Page
of 18
American Journal of Medical Genetics. Part A
|
May 18, 2016
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene
Nadia Akawi, Salma Ben-Salem, Laura Lahti, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
September 10, 2013
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
Salma Ben-Salem, Jozef Hertecant, Aisha M Al-Shamsi, et al.
Human Genomics
|
September 2, 2022
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Sally Badawi, Feda E Mohamed, Nesreen R Alkhofash, et al.
Journal of Pediatric Genetics
|
August 1, 2024
Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature
Hanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, et al.
Journal of Molecular Neuroscience : MN
|
November 19, 2014
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, et al.
Human Genomics
|
January 4, 2024
The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population
Lubna Q Khasawneh, Habiba Alsafar, Hiba Alblooshi, et al.
Frontiers in Immunology
|
June 13, 2017
Intratumoral FoxP3<sup>+</sup>Helios<sup>+</sup> Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer
Azharuddin Sajid Syed Khaja, Salman M Toor, Haytham El Salhat, et al.
BMC Medical Genetics
|
September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Journal of Molecular Neuroscience : MN
|
June 10, 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, et al.
Clinical Epigenetics
|
July 10, 2018
DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary breast cancer
Varun Sasidharan Nair, Haytham El Salhat, Rowaida Z Taha, et al.
Page
of 18