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Neurogenetics

Showing results (471-480 of 1,081) with videos related to

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Neurogenetics|February 15, 2014
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A geneLubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, et al.
Neurogenetics|September 30, 2016
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophyElena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, et al.
Neurogenetics|March 27, 2019
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS eraStefania Zampatti, Luca Colantoni, Claudia Strafella, et al.
Neurogenetics|November 6, 2021
Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter studyJi-You Min, Seo-Jin Park, Eun-Joo Kang, et al.
Neurogenetics|November 13, 2012
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2B-O Choi, M-H Park, K W Chung, et al.
Neurogenetics|June 15, 2014
'Neuroinflammation' differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases comparedMichaela D Filiou, Ahmed Shamsul Arefin, Pablo Moscato, et al.
Neurogenetics|September 6, 2012
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMRA Terracciano, N Specchio, F Darra, et al.
Neurogenetics|June 19, 2012
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's diseaseEva C Schulte, Brit Mollenhauer, Alexander Zimprich, et al.
Neurogenetics|July 27, 2012
Mosaic DCX deletion causes subcortical band heterotopia in malesChloé Quélin, Yoann Saillour, Isabelle Souville, et al.
Neurogenetics|August 1, 2012
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominanceYoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa, et al.
Pageof 109

Showing results (471-480 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|February 15, 2014
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A geneLubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, et al.
Neurogenetics|September 30, 2016
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophyElena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, et al.
Neurogenetics|March 27, 2019
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS eraStefania Zampatti, Luca Colantoni, Claudia Strafella, et al.
Neurogenetics|November 6, 2021
Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter studyJi-You Min, Seo-Jin Park, Eun-Joo Kang, et al.
Neurogenetics|November 13, 2012
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2B-O Choi, M-H Park, K W Chung, et al.
Neurogenetics|June 15, 2014
'Neuroinflammation' differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases comparedMichaela D Filiou, Ahmed Shamsul Arefin, Pablo Moscato, et al.
Neurogenetics|September 6, 2012
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMRA Terracciano, N Specchio, F Darra, et al.
Neurogenetics|June 19, 2012
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's diseaseEva C Schulte, Brit Mollenhauer, Alexander Zimprich, et al.
Neurogenetics|July 27, 2012
Mosaic DCX deletion causes subcortical band heterotopia in malesChloé Quélin, Yoann Saillour, Isabelle Souville, et al.
Neurogenetics|August 1, 2012
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominanceYoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa, et al.
Pageof 109