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Pediatric Dermatology|March 29, 2013
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin AAleksandar L Krunic, Kristina L Stone, Michael A Simpson, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|July 31, 2013
Next generation diagnostics of heritable connective tissue disordersAmr Salam, Michael A Simpson, Kristina L Stone, et al.
Experimental Dermatology|November 28, 2013
Impact of next generation sequencing on diagnostics in a genetic skin disease clinicTakuya Takeichi, Arti Nanda, Lu Liu, et al.
American Journal of Human Genetics|November 27, 2012
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityJohn A McGrath, Kristina L Stone, Rumena Begum, et al.
The Journal of Investigative Dermatology|April 3, 2014
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFRPatrick Campbell, Penny E Morton, Takuya Takeichi, et al.
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