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Showing 92 - 104 of 360

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Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders,  [ ... ], Sakthivel Sadayappan

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio,  [ ... ], Vincenzo Sorrentino

Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey,  [ ... ], Jakob D. Wikstrom

Molecular subtype specific efficacy of MEK inhibitors in pancreatic cancers

Diána Brauswetter, Bianka Gurbi,  [ ... ], István Peták

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann,  [ ... ], on behalf of The PodoNet Consortium

Systematic genomic and translational efficiency studies of uveal melanoma

Chelsea Place Johnson, Ivana K. Kim,  [ ... ], Scott E. Woodman

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