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Fatma Al-Jasmi

Showing results (11-20 of 59) with videos related to

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European Journal of Pediatrics|November 13, 2014
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variabilityAisha M Al-Shamsi, Salma Ben-Salem, Jozef Hertecant, et al.
Frontiers in Pharmacology|July 25, 2017
Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future PromisesFedah E Mohamed, Lihadh Al-Gazali, Fatma Al-Jasmi, et al.
Frontiers in Genetics|December 30, 2022
Etoricoxib as a treatment of choice for patients with <i>SLCO2A1</i> mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case reportAreej Albawa'neh, Mariam Ghareeb Al Mansoori, Sehriban Diab, et al.
Journal of Molecular Neuroscience : MN|March 22, 2022
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP GeneFeda E Mohamed, Amanat Ali, Amal Al-Tenaiji, et al.
Journal of Pediatric Hematology/Oncology|September 19, 2008
Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosisFatma Al-Jasmi, Mohamed Abdelhaleem, Tracy Stockley, et al.
Sultan Qaboos University Medical Journal|February 12, 2014
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab EmiratesAisha Al-Shamsi, Jozef L Hertecant, Sania Al-Hamad, et al.
Genes|June 2, 2021
Characterization of <i>ETFDH</i> and <i>PHGDH</i> Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine DeficiencyAmanat Ali, Nahid Al Dhahouri, Fatmah Saeed Ali Almesmari, et al.
Sultan Qaboos University Medical Journal|August 29, 2013
Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich CultureFatma Al-Jasmi, Thachillath Pramathan, Adnan Swid, et al.
Brain & Development|August 7, 2018
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survivalNuha Al Zaabi, Anoud Kendi, Fatma Al-Jasmi, et al.
Orphanet Journal of Rare Diseases|June 19, 2013
LINS, a modulator of the WNT signaling pathway, is involved in human cognitionNadia A Akawi, Fatma Al-Jasmi, Aisha M Al-Shamsi, et al.
Pageof 6

Showing results (11-20 of 59) with videos related to

Sort By:
Pageof 6
European Journal of Pediatrics|November 13, 2014
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variabilityAisha M Al-Shamsi, Salma Ben-Salem, Jozef Hertecant, et al.
Frontiers in Pharmacology|July 25, 2017
Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future PromisesFedah E Mohamed, Lihadh Al-Gazali, Fatma Al-Jasmi, et al.
Frontiers in Genetics|December 30, 2022
Etoricoxib as a treatment of choice for patients with <i>SLCO2A1</i> mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case reportAreej Albawa'neh, Mariam Ghareeb Al Mansoori, Sehriban Diab, et al.
Journal of Molecular Neuroscience : MN|March 22, 2022
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP GeneFeda E Mohamed, Amanat Ali, Amal Al-Tenaiji, et al.
Journal of Pediatric Hematology/Oncology|September 19, 2008
Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosisFatma Al-Jasmi, Mohamed Abdelhaleem, Tracy Stockley, et al.
Sultan Qaboos University Medical Journal|February 12, 2014
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab EmiratesAisha Al-Shamsi, Jozef L Hertecant, Sania Al-Hamad, et al.
Genes|June 2, 2021
Characterization of <i>ETFDH</i> and <i>PHGDH</i> Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine DeficiencyAmanat Ali, Nahid Al Dhahouri, Fatmah Saeed Ali Almesmari, et al.
Sultan Qaboos University Medical Journal|August 29, 2013
Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich CultureFatma Al-Jasmi, Thachillath Pramathan, Adnan Swid, et al.
Brain & Development|August 7, 2018
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survivalNuha Al Zaabi, Anoud Kendi, Fatma Al-Jasmi, et al.
Orphanet Journal of Rare Diseases|June 19, 2013
LINS, a modulator of the WNT signaling pathway, is involved in human cognitionNadia A Akawi, Fatma Al-Jasmi, Aisha M Al-Shamsi, et al.
Pageof 6