檢索結果 - Jorrit I. Hoff
- Showing 1 - 3 results of 3
-
1
-
2
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... 由 Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit
出版 2013Artigo -
3
A <scp>Large‐Scale</scp> Full <scp><i>GBA1</i></scp> Gene Screening in Parkinson's Disease in the Netherlands 由 Jonas M. den Heijer, Valerie Cullen, Marialuisa Quadri, Arnoud Schmitz, Dana Hilt, Peter T. Lansbury, Henk W. Berendse, Wilma D.J. van de Berg, Rob M.A. de Bie, Jeffrey M. Boertien, Agnita J.W. Boon, Maria Fiorella Contarino, Jacobus J. van Hilten, Jorrit I. Hoff, Tom van Mierlo, Alex G. Munts, Anne A. van der Plas, Mirthe M. Ponsen, Frank Baas, Daniëlle Majoor‐Krakauer, Vincenzo Bonifati, Teus van Laar, Geert Jan Groeneveld
出版 2020Artigo
相關主題
Biology
Gene
Genetics
Internal medicine
Medicine
Missense mutation
Agonist
Allele
Anesthesia
Ataxia
Baclofen
Cohort
Disease
Dystonia
Dystrophy
Environmental health
Frameshift mutation
Genome
Intrathecal
Locus (genetics)
Loss function
Mutation
Neuronal ceroid lipofuscinosis
Neuroscience
Nonsynonymous substitution
Parkinson's disease
Pathology
Phenotype
Physical medicine and rehabilitation
Population