Concepedia

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, T Furukawa,

The American Journal of Human Genetics · 2010 · 152 citations · 22 references

DOIFull text

Open access

Concepts

References

22

Efficient selection for high-expression transfectants with a novel eukaryotic vector

Hitoshi Niwa, Ken‐ichi Yamamura, Jun‐ichi Miyazaki · Gene · 1991 · 5.2K citations

, , +15

Protein structure prediction on the Web: a case study using the Phyre server

Lawrence A. Kelley, Michael J.E. Sternberg · Nature Protocols · 2009 · 4.2K citations

, , +8

A mitogen gradient of dorsal midline Wnts organizes growth in the CNS

Sean G. Megason, Andrew P. McMahon · Development · 2002 · 682 citations

, , +17

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman et al. · New England Journal of Medicine · 2006 · 630 citations

, , +17

Hereditary spherocytosis

Silverio Perrotta, Patrick G. Gallagher, Narla Mohandas · The Lancet · 2008 · 593 citations