Andreas Janecke
Medical University of Innsbruck
110 papers found
Refreshing results…
Hypoplasia of Deep Cerebellar Nuclei in Joubert Syndrome
Download from www.researchgate.netIdentification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations
Download from www.nature.comMutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
Download from www.ncbi.nlm.nih.govMutations in PYCR1 cause cutis laxa with progeroid features.
Download from www.nature.comA Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea:
Download from pdfs.journals.lww.comMYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
Download from www.nature.comTwo Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome
Download from www.ncbi.nlm.nih.govSystematic screening and treatment evaluation of hereditary neck paragangliomas
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