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Neurogenetics
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March 18, 2024
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature
Federica Teutonico, Clara Volpe, Alice Proto, et al.
Neurogenetics
|
March 18, 2024
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Sokhna Haissatou Diaw, Sylvie Delcambre, Christoph Much, et al.
Neurogenetics
|
April 9, 2024
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, et al.
Neurogenetics
|
February 22, 2024
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Pardis Najafi, Christian Reimer, Jonathan D Gilthorpe, et al.
Neurogenetics
|
January 27, 2024
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Namanpreet Kaur, Khyati Arora, Periyasamy Radhakrishnan, et al.
Neurogenetics
|
May 17, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, et al.
Neurogenetics
|
April 23, 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, et al.
Neurogenetics
|
March 16, 2026
OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature
Arzu Eroğlu, Dilan Genç Akdağ, Gül Ünsel-Bolat, et al.
Neurogenetics
|
April 8, 2026
Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum
Yong Luo, Jian Chen, Qian Li, et al.
Neurogenetics
|
November 25, 2024
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine
Vijeta Prakash, Reema Gabrani
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Search research articles
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Showing results (241-250 of 1,080) with videos related to
Sort By:
Page
of 108
Neurogenetics
|
March 18, 2024
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature
Federica Teutonico, Clara Volpe, Alice Proto, et al.
Neurogenetics
|
March 18, 2024
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Sokhna Haissatou Diaw, Sylvie Delcambre, Christoph Much, et al.
Neurogenetics
|
April 9, 2024
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, et al.
Neurogenetics
|
February 22, 2024
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Pardis Najafi, Christian Reimer, Jonathan D Gilthorpe, et al.
Neurogenetics
|
January 27, 2024
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Namanpreet Kaur, Khyati Arora, Periyasamy Radhakrishnan, et al.
Neurogenetics
|
May 17, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, et al.
Neurogenetics
|
April 23, 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, et al.
Neurogenetics
|
March 16, 2026
OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature
Arzu Eroğlu, Dilan Genç Akdağ, Gül Ünsel-Bolat, et al.
Neurogenetics
|
April 8, 2026
Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum
Yong Luo, Jian Chen, Qian Li, et al.
Neurogenetics
|
November 25, 2024
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine
Vijeta Prakash, Reema Gabrani
Page
of 108