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Bassam R Ali

Showing results (131-140 of 173) with videos related to

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Frontiers in Pharmacology|April 3, 2025
Impact of <i>CYP3A4</i> and <i>ABCB1</i> genetic variants on tacrolimus dosing in Greek kidney transplant recipientsAnna Tsironi, Konstantinos Lazaros, Effrosyni Mendrinou, et al.
Biochimica Et Biophysica Acta|September 1, 2014
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndromePraseetha Kizhakkedath, Anke Loregger, Anne John, et al.
Hemoglobin|May 2, 2019
Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort StudyAlexandra Kolliopoulou, Stavroula Siamoglou, Anne John, et al.
Human Genomics|July 15, 2023
Knowledge, attitudes, and perceptions of the multi-ethnic population of the United Arab Emirates on genomic medicine and genetic testingAzhar T Rahma, Bassam R Ali, George P Patrinos, et al.
BMC Medical Genetics|April 15, 2014
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular traffickingAdila Al-Kindi, Praseetha Kizhakkedath, Huifang Xu, et al.
Plos One|October 25, 2011
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasiaBassam R Ali, Imen Ben-Rebeh, Anne John, et al.
Annals of Human Genetics|September 24, 2020
Association of variants in PTPN22, CTLA-4, IL2-RA, and INS genes with type 1 diabetes in EmiratisCharu Sharma, Bassam R Ali, Wael Osman, et al.
Frontiers in Cell and Developmental Biology|December 11, 2023
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short statureSally Badawi, Divya Saro Varghese, Anjana Raj, et al.
Human Mutation|December 21, 2012
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 cataractsNadia A Akawi, Fuat E Canpolat, Susan M White, et al.
European Journal of Medical Genetics|January 28, 2017
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twinsJozef Hertecant, Makanko Komara, Aslam Nagi, et al.
Pageof 18

Showing results (131-140 of 173) with videos related to

Sort By:
Pageof 18
Frontiers in Pharmacology|April 3, 2025
Impact of <i>CYP3A4</i> and <i>ABCB1</i> genetic variants on tacrolimus dosing in Greek kidney transplant recipientsAnna Tsironi, Konstantinos Lazaros, Effrosyni Mendrinou, et al.
Biochimica Et Biophysica Acta|September 1, 2014
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndromePraseetha Kizhakkedath, Anke Loregger, Anne John, et al.
Hemoglobin|May 2, 2019
Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort StudyAlexandra Kolliopoulou, Stavroula Siamoglou, Anne John, et al.
Human Genomics|July 15, 2023
Knowledge, attitudes, and perceptions of the multi-ethnic population of the United Arab Emirates on genomic medicine and genetic testingAzhar T Rahma, Bassam R Ali, George P Patrinos, et al.
BMC Medical Genetics|April 15, 2014
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular traffickingAdila Al-Kindi, Praseetha Kizhakkedath, Huifang Xu, et al.
Plos One|October 25, 2011
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasiaBassam R Ali, Imen Ben-Rebeh, Anne John, et al.
Annals of Human Genetics|September 24, 2020
Association of variants in PTPN22, CTLA-4, IL2-RA, and INS genes with type 1 diabetes in EmiratisCharu Sharma, Bassam R Ali, Wael Osman, et al.
Frontiers in Cell and Developmental Biology|December 11, 2023
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short statureSally Badawi, Divya Saro Varghese, Anjana Raj, et al.
Human Mutation|December 21, 2012
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 cataractsNadia A Akawi, Fuat E Canpolat, Susan M White, et al.
European Journal of Medical Genetics|January 28, 2017
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twinsJozef Hertecant, Makanko Komara, Aslam Nagi, et al.
Pageof 18