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Fatma Al-Jasmi

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BMC Neurology|October 17, 2015
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group, Fatma Al Jasmi, Mohammed Al Jumah, et al.
Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Iscience|September 8, 2025
An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsDimitri Budinger, Sharmin Alhaque, Ramón González-Méndez, et al.
Frontiers in Molecular Biosciences|October 16, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health recordsNadia Akawi, Ghadeera Al Mansoori, Anwar Al Zaabi, et al.
Genetics in Medicine Open|January 19, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry diseaseDominique P Germain, Fatma Al-Jasmi, Gheona Altarescu, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Journal of Inherited Metabolic Disease|June 24, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-MannosidosisRobert Šáhó, Renata Formánková, Julie B Eisengart, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Pageof 6

Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
BMC Neurology|October 17, 2015
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group, Fatma Al Jasmi, Mohammed Al Jumah, et al.
Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Iscience|September 8, 2025
An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsDimitri Budinger, Sharmin Alhaque, Ramón González-Méndez, et al.
Frontiers in Molecular Biosciences|October 16, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health recordsNadia Akawi, Ghadeera Al Mansoori, Anwar Al Zaabi, et al.
Genetics in Medicine Open|January 19, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry diseaseDominique P Germain, Fatma Al-Jasmi, Gheona Altarescu, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Journal of Inherited Metabolic Disease|June 24, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-MannosidosisRobert Šáhó, Renata Formánková, Julie B Eisengart, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Pageof 6