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4
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Hum Mutat
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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
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Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
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CD and NMR studies of prion protein (PrP) helix 1. Novel implications for its role in the PrPC-->PrPSc conversion process.
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Neurogenetics
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2009
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1.10
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A computational strategy for the prediction of functional linear peptide motifs in proteins.
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Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
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A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.
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Profiling of WDR36 missense variants in German patients with glaucoma.
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A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
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Structural characterization of Lyn-SH3 domain in complex with a herpesviral protein reveals an extended recognition motif that enhances binding affinity.
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Combining independent drug classes into superior, synergistically acting hybrid molecules.
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