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Neurogenetics

Showing results (571-580 of 1,081) with videos related to

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Neurogenetics|September 6, 2019
Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous systemSimone L Schonkeren, Maartje Massen, Raisa van der Horst, et al.
Neurogenetics|March 6, 2021
De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathyLe Thi Khanh Van, Huynh Thi Dieu Hien, Huynh Thi Thuy Kieu, et al.
Neurogenetics|March 8, 2021
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorderNele Cosemans, Jarymke Maljaars, Annick Vogels, et al.
Neurogenetics|July 25, 2016
Circular RNAs-one of the enigmas of the brainIvan B Filippenkov, Eugene O Kalinichenko, Svetlana A Limborska, et al.
Neurogenetics|August 13, 2021
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activationChiara Cavestro, Celeste Panteghini, Chiara Reale, et al.
Neurogenetics|May 28, 2020
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effectMarta Melis, Andrea Molari, Gianluca Floris, et al.
Neurogenetics|August 4, 2021
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouseAntonia Maletzko, Jana Key, Ilka Wittig, et al.
Neurogenetics|May 20, 2021
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephalyK Kloth, L Graul-Neumann, K Hermann, et al.
Neurogenetics|September 14, 2021
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigreesDavid Brenner, Kathrin Müller, Serena Lattante, et al.
Neurogenetics|May 20, 2020
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survivalTamar Gur Hartman, Keren Yosovich, Hila Gur Michaeli, et al.
Pageof 109

Showing results (571-580 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|September 6, 2019
Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous systemSimone L Schonkeren, Maartje Massen, Raisa van der Horst, et al.
Neurogenetics|March 6, 2021
De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathyLe Thi Khanh Van, Huynh Thi Dieu Hien, Huynh Thi Thuy Kieu, et al.
Neurogenetics|March 8, 2021
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorderNele Cosemans, Jarymke Maljaars, Annick Vogels, et al.
Neurogenetics|July 25, 2016
Circular RNAs-one of the enigmas of the brainIvan B Filippenkov, Eugene O Kalinichenko, Svetlana A Limborska, et al.
Neurogenetics|August 13, 2021
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activationChiara Cavestro, Celeste Panteghini, Chiara Reale, et al.
Neurogenetics|May 28, 2020
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effectMarta Melis, Andrea Molari, Gianluca Floris, et al.
Neurogenetics|August 4, 2021
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouseAntonia Maletzko, Jana Key, Ilka Wittig, et al.
Neurogenetics|May 20, 2021
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephalyK Kloth, L Graul-Neumann, K Hermann, et al.
Neurogenetics|September 14, 2021
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigreesDavid Brenner, Kathrin Müller, Serena Lattante, et al.
Neurogenetics|May 20, 2020
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survivalTamar Gur Hartman, Keren Yosovich, Hila Gur Michaeli, et al.
Pageof 109