Search research articles
Contact Us
Filters
Showing results (831-840 of 898) with videos related to
Page
of 90
Sort By:
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 11, 2017
A post hoc study on gene panel analysis for the diagnosis of dystonia
Martje E van Egmond, Coen H A Lugtenberg, Oebele F Brouwer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 21, 2015
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy
A Müller, I Helbig, C Jansen, et al.
Neurology
|
June 5, 2016
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy
Diane F van Rappard, Marianna Bugiani, Jaap J Boelens, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 15, 2004
Genome sequence of the deep-sea gamma-proteobacterium Idiomarina loihiensis reveals amino acid fermentation as a source of carbon and energy
Shaobin Hou, Jimmy H Saw, Kit Shan Lee, et al.
Nature Genetics
|
November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Jan Senderek, Michael Krieger, Claudia Stendel, et al.
Journal of Medical Genetics
|
May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
The Lancet. Neurology
|
May 28, 2013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Christel Depienne, Marianna Bugiani, Céline Dupuits, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Nature Reviews. Microbiology
|
September 29, 2015
An updated evolutionary classification of CRISPR-Cas systems
Kira S Makarova, Yuri I Wolf, Omer S Alkhnbashi, et al.
Neuropediatrics
|
February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Saskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Page
of 90
Search research articles
Search
Showing results (831-840 of 898) with videos related to
Sort By:
Page
of 90
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 11, 2017
A post hoc study on gene panel analysis for the diagnosis of dystonia
Martje E van Egmond, Coen H A Lugtenberg, Oebele F Brouwer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 21, 2015
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy
A Müller, I Helbig, C Jansen, et al.
Neurology
|
June 5, 2016
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy
Diane F van Rappard, Marianna Bugiani, Jaap J Boelens, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 15, 2004
Genome sequence of the deep-sea gamma-proteobacterium Idiomarina loihiensis reveals amino acid fermentation as a source of carbon and energy
Shaobin Hou, Jimmy H Saw, Kit Shan Lee, et al.
Nature Genetics
|
November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Jan Senderek, Michael Krieger, Claudia Stendel, et al.
Journal of Medical Genetics
|
May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
The Lancet. Neurology
|
May 28, 2013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Christel Depienne, Marianna Bugiani, Céline Dupuits, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Nature Reviews. Microbiology
|
September 29, 2015
An updated evolutionary classification of CRISPR-Cas systems
Kira S Makarova, Yuri I Wolf, Omer S Alkhnbashi, et al.
Neuropediatrics
|
February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Saskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Page
of 90