檢索結果 - Martin A. Haagmans
- Showing 1 - 3 results of 3
-
1
-
2
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome 由 J Groen, Arturo Andrade, Katja Ritz, Hamid Jalalzadeh, Martin A. Haagmans, Ted E. Bradley, Aldo Jongejan, Dineke S. Verbeek, Peter Nürnberg, Sylvia A. Denome, Raoul C.M. Hennekam, Diane Lipscombe, Frank Baas, Marina A.J. Tijssen
出版 2014Artigo -
3
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome 由 Iliana A. Chatzispyrou, Mariëlle Alders, Sergio Guerrero‐Castillo, Rubén Zapata‐Pérez, Martin A. Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R. Waterham, Johannes N. Spelbrink, Johan Auwerx, Marcel M.A.M. Mannens, Riekelt H. Houtkooper, Astrid S. Plomp
出版 2017Artigo
相關主題
Biology
Gene
Genetics
Exome sequencing
Missense mutation
Mutation
Allergy
Cow's milk allergy
Dystonia
Epigenetics
Excitatory postsynaptic potential
Family medicine
Food allergy
Immunology
Inhibitory postsynaptic potential
Ion channel
Medicine
Milk allergy
Mitochondrial DNA
Mitochondrial disease
Mitochondrion
Molecular biology
Myoclonus
Neuroscience
Proteostasis
RNA
Receptor
Ribosomal RNA
Ribosomal protein
Ribosome