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Matthis Synofzik

Showing results (281-290 of 511) with videos related to

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European Journal of Human Genetics : EJHG|June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Nature Reviews. Drug Discovery|November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapAnneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.
Neuroimage. Clinical|January 9, 2023
Multiclass prediction of different dementia syndromes based on multi-centric volumetric MRI imagingLeonie Lampe, Hans-Jürgen Huppertz, Sarah Anderl-Straub, et al.
Biorxiv : the Preprint Server for Biology|February 6, 2026
Distinct TAF15 amyloid filament folds define multiple subtypes of FTLD-TAF15Stephan Tetter, Nikhil R Varghese, Alexey G Murzin, et al.
European Journal of Human Genetics : EJHG|August 16, 2021
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Brain : a Journal of Neurology|February 1, 2017
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, et al.
Journal of Neurology|September 3, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disordersJulien Park, Tatiana Bremova-Ertl, Marion Brands, et al.
Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Pageof 52

Showing results (281-290 of 511) with videos related to

Sort By:
Pageof 52
European Journal of Human Genetics : EJHG|June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Nature Reviews. Drug Discovery|November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapAnneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.
Neuroimage. Clinical|January 9, 2023
Multiclass prediction of different dementia syndromes based on multi-centric volumetric MRI imagingLeonie Lampe, Hans-Jürgen Huppertz, Sarah Anderl-Straub, et al.
Biorxiv : the Preprint Server for Biology|February 6, 2026
Distinct TAF15 amyloid filament folds define multiple subtypes of FTLD-TAF15Stephan Tetter, Nikhil R Varghese, Alexey G Murzin, et al.
European Journal of Human Genetics : EJHG|August 16, 2021
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Brain : a Journal of Neurology|February 1, 2017
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, et al.
Journal of Neurology|September 3, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disordersJulien Park, Tatiana Bremova-Ertl, Marion Brands, et al.
Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Pageof 52