Andreas Janecke
Medical University of Innsbruck
110 papers found
Refreshing results…
Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome
Download from doi.orgLoss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Download from www.nature.comInherited ichthyoses/generalized Mendelian disorders of cornification
Download from www.nature.comDefining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
Download from publications.aap.orgMNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
Download from www.ncbi.nlm.nih.govSignificance of molecular testing for congenital chloride diarrhea
Download from espace.library.uq.edu.auMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
Download from www.jci.orgFilaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function
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