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Publications by E. Puffenberger
Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
Science
Multidisciplinary
Philosophy of Science
History
Related publications
Pseudouridines in U2 snRNA Stimulate the ATPase Activity of Prp5 During Spliceosome Assembly
EMBO Journal
Immunology
Molecular Biology
Biochemistry
Microbiology
Neuroscience
Medicine
Genetics
OP27.03: Prenatal Diagnosis of MOPD Type I Caused by Mutations in the RNU4ATAC Gene: A Case Report
Ultrasound in Obstetrics and Gynecology
Nuclear Medicine
Radiology
Ultrasound Technology
Gynecology
Reproductive Medicine
Radiological
Imaging
Obstetrics
Medicine
The Minor Spliceosome Could Be the Major Key for FUS/TLS Mutants in ALS
EMBO Journal
Immunology
Molecular Biology
Biochemistry
Microbiology
Neuroscience
Medicine
Genetics
Competition Between the ATPase Prp5 and Branch Region-U2 snRNA Pairing Modulates the Fidelity of Spliceosome Assembly
Molecular Cell
Cell Biology
Molecular Biology
Splicing Factor Mutations in Myelodysplasias: Insights From Spliceosome Structures
Trends in Genetics
Genetics
Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Structure of a Human Catalytic Step I Spliceosome
Science
Multidisciplinary
Philosophy of Science
History
Aberrant RNA Splicing and Mutations in Spliceosome Complex in Acute Myeloid Leukemia
Stem Cell Investigation
Developmental Trajectories of the Corpus Callosum in Attention-Deficit/Hyperactivity Disorder
Biological Psychiatry
Biological Psychiatry
