Showing results (131-140 of 163) with videos related to

Sort By:
Pageof 17
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Clinical Genetics|November 13, 2022
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three familiesAurélie Becker, Charlotte Felici, Laëtitia Lambert, et al.
The EMBO Journal|March 14, 2013
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative diseaseReza Sharifi, Rosa Morra, C Denise Appel, et al.
Frontiers in Neuroscience|November 5, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane TraffickingHaicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Clinical Genetics|September 3, 2025
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 PatientsPegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, et al.
Virology|July 15, 2021
Study on SARS-CoV-2 strains in Iran reveals potential contribution of co-infection with and recombination between different strains to the emergence of new strainsPeyman Taghizadeh, Sadegh Salehi, Ali Heshmati, et al.
Pageof 17