Mutations in NOTCH1 cause aortic valve disease

Osf2/Cbfa1: A Transcriptional Activator of Osteoblast Differentiation

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Heart Disease and Stroke Statistics—2007 Update

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Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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Activating Mutations of <i>NOTCH1</i> in Human T Cell Acute Lymphoblastic Leukemia

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Life Sciences, Molecular Biology, Oncology +17

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

Jonathan C. Cohen, Alexander Pertsemlidis, Ingrid K. Kotowski et al. · Nature Genetics · 2005 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +13