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American Journal of Human Genetics
|
April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
Debora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Neurology
|
August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
Katrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Neurology
|
February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Neurology
|
April 29, 2021
APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies
Aykut Aytulun, Andrés Cruz-Herranz, Orhan Aktas, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Brain : a Journal of Neurology
|
April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
Page
of 9
Search research articles
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Showing results (81-90 of 86) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 86 results.
American Journal of Human Genetics
|
April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
Debora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Neurology
|
August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
Katrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Neurology
|
February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Neurology
|
April 29, 2021
APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies
Aykut Aytulun, Andrés Cruz-Herranz, Orhan Aktas, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Brain : a Journal of Neurology
|
April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
Page
of 9