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Neurogenetics

Showing results (511-520 of 1,081) with videos related to

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Neurogenetics|February 22, 2024
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohortAyberk Türkyılmaz, Safiye Güneş Sağer, Emine Tekin, et al.
Neurogenetics|August 17, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 geneMaike Tomforde, Meike Steinbach, Tobias B Haack, et al.
Neurogenetics|June 21, 2023
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbiditySophie Hebestreit, Janine Schwahn, Vesile Sandikci, et al.
Neurogenetics|March 17, 2026
Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disabilityHongmei Tang, Mingshan Han, Jie Luo, et al.
Neurogenetics|March 23, 2026
PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotypeNayan Gupta, Mritunjai Kumar, Ashutosh Tiwari, et al.
Neurogenetics|April 6, 2026
Neuroepigenetic regulation by long non-coding RNAs in sepsis-associated encephalopathy: cell-type programs and translational biomarkersYun Wang, Xuexin Li, Bowen Sun, et al.
Neurogenetics|April 18, 2026
Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approachesPavol Ďurina, Andrej Bandura, Ján Chandoga, et al.
Neurogenetics|April 27, 2026
Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?Lan Kluwe, Tabea Hartung, Steffen Rosahl, et al.
Neurogenetics|May 11, 2026
Spastic paraparesis linked to a rare presenilin-1 mutationCatarina Teles, João Durães, Pedro Faustino, et al.
Neurogenetics|May 18, 2026
Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three casesSifen Xie, Qiqiong Yang, Mengqiu Pan, et al.
Pageof 109

Showing results (511-520 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|February 22, 2024
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohortAyberk Türkyılmaz, Safiye Güneş Sağer, Emine Tekin, et al.
Neurogenetics|August 17, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 geneMaike Tomforde, Meike Steinbach, Tobias B Haack, et al.
Neurogenetics|June 21, 2023
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbiditySophie Hebestreit, Janine Schwahn, Vesile Sandikci, et al.
Neurogenetics|March 17, 2026
Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disabilityHongmei Tang, Mingshan Han, Jie Luo, et al.
Neurogenetics|March 23, 2026
PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotypeNayan Gupta, Mritunjai Kumar, Ashutosh Tiwari, et al.
Neurogenetics|April 6, 2026
Neuroepigenetic regulation by long non-coding RNAs in sepsis-associated encephalopathy: cell-type programs and translational biomarkersYun Wang, Xuexin Li, Bowen Sun, et al.
Neurogenetics|April 18, 2026
Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approachesPavol Ďurina, Andrej Bandura, Ján Chandoga, et al.
Neurogenetics|April 27, 2026
Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?Lan Kluwe, Tabea Hartung, Steffen Rosahl, et al.
Neurogenetics|May 11, 2026
Spastic paraparesis linked to a rare presenilin-1 mutationCatarina Teles, João Durães, Pedro Faustino, et al.
Neurogenetics|May 18, 2026
Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three casesSifen Xie, Qiqiong Yang, Mengqiu Pan, et al.
Pageof 109