Concepedia

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Víctor L. Ruiz‐Pérez, Stuart W. Tompson, J. Helen Blair, Cecilia Espinoza‐Valdez, Pablo Lapunzina, Elias O. Silva, Ben C.J. Hamel, John L. Gibbs, I D Young, Michael Wright,

The American Journal of Human Genetics · 2003 · 229 citations · 16 references

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16

The Sequence of the Human Genome

J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.6K citations

The Sequence of the Human Genome

J. Craig Venter, Hamilton O. Smith, Mark D. Adams · Clinical Chemistry · 2015 · 1.7K citations · Full text

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Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters

Knut Erik Berge, Hui Tian, Gregory A. Graf et al. · Science · 2000 · 1.6K citations

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

Heleni Vastardis, Nadeem Y. Karimbux, Symon W. Guthua et al. · Nature Genetics · 1996 · 721 citations

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

Marie‐José H. van den Boogaard, M. Dorland, Frits A. Beemer et al. · Nature Genetics · 2000 · 584 citations

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