Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Movement Disorders : Official Journal of the Movement Disorder Society|May 6, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar DisordersKatariina Granath, Sanna Huhtaniska, Juulia Ellonen, et al.
Epilepsia|September 27, 2018
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsyJohanna Hynynen, Tytti Pokka, Jonna Komulainen-Ebrahim, et al.
Brain, Behavior, & Immunity - Health|June 13, 2025
Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variantAnniina E Hiltunen, Salla M Kangas, Aishwarya Gondane, et al.
The FEBS Journal|July 17, 2025
In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responsesTomáš Zárybnický, Sonja Lindfors, Saana Metso, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|July 30, 2021
INFRAFRONTIER quality principles in systemic phenotypingHilke Ehlich, Heather L Cater, Ann M Flenniken, et al.
Acta Neuropathologica|February 10, 2018
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary diseaseJohanna Uusimaa, Riitta Kaarteenaho, Teija Paakkola, et al.
Cell Reports|March 6, 2024
ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signalingFlavia Scoyni, Valeriia Sitnikova, Luca Giudice, et al.
The Journal of Allergy and Clinical Immunology|March 4, 2021
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunctionMeri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|December 10, 2025
A quality framework for cryopreserved rodent disease models: INFRAFRONTIER quality principles in EMMA archiving and distributionHilke Ehlich, Andrew Blease, Reva Biju, et al.
Pageof 6