Birgit Zirn
- ANKRD11 variants: KBG syndrome and beyond
2021/05/06 by Ilaria Parenti, Mark B. Mallozzi, Mark Mallozzi +41 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Hedgehog Signaling Pathway Studies
- Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy
2008/03/17 by Birgit Zirn, Wolfram Kreß, T. Grimm +5 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Nuclear Structure and Function #RNA Research and Splicing #RNA modifications and cancer #LMNA #Progeria #Phenotype #Lamin #Compound heterozygosity #Genetics #Muscle contracture #Muscular dystrophy #Mutation #Medicine #Biology #Anatomy #Gene