Risultati della ricerca - Martin A. Haagmans
- Mostra 1 - 3 risultati su 3
-
1
-
2
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome di 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
Pubblicazione 2014Artigo -
3
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome di 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
Pubblicazione 2017Artigo
Strumenti per la ricerca:
Soggetti correlati
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