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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.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