Concepedia

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Christian T. Thiel, Kristin Kessler, Arno Dimmler, Stavit A. Shalev, Sigrun von der Haar, Martin Zenker, Diana Zahnleiter, Ernst Beinder, Rami Abou Jamra, Arif B. Ekici,

The American Journal of Human Genetics · 2011 · 184 citations · 31 references

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31

Patched1 Regulates Hedgehog Signaling at the Primary Cilium

Rajat Rohatgi, Ljiljana Milenković, Matthew P. Scott · Science · 2007 · 1.5K citations

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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text

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Gene prioritization through genomic data fusion

Stein Aerts, Diether Lambrechts, Sunit Maity et al. · Nature Biotechnology · 2006 · 907 citations

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Cilia and Hedgehog responsiveness in the mouse

Danwei Huangfu, Kathryn V. Anderson · Proceedings of the National Academy of Sciences · 2005 · 825 citations · Full text

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Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Matias Simons, Joachim Gloy, Athina Ganner et al. · Nature Genetics · 2005 · 756 citations

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