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Items: 3

1.
Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia
Evgeny A. Glazov, Andreas Zankl, Marina Donskoi, Tony J. Kenna, Gethin P. Thomas, Graeme R. Clark, Emma L. Duncan, Matthew A. Brown
PLoS Genet. 2011 Mar; 7(3): e1002027. Published online 2011 Mar 24. doi: 10.1371/journal.pgen.1002027
PMCID:
PMC3063761
ArticlePDF–583K
2.
Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum
Christian T.  Thiel, Geert  Mortier, Ilkka  Kaitila, André  Reis, Anita  Rauch
Am J Hum Genet. 2007 Sep; 81(3): 519–529. Published online 2007 Aug 6. doi: 10.1086/521034
PMCID:
PMC1950841
ArticlePDF–682K
3.
Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator
Christian T.  Thiel, Denise  Horn, Bernhard  Zabel, Arif B.  Ekici, Kelly  Salinas, Erich  Gebhart, Franz  Rüschendorf, Heinrich  Sticht, Jürgen  Spranger, Dietmar  Müller, Christiane  Zweier, Mark E.  Schmitt, André  Reis, Anita  Rauch
Am J Hum Genet. 2005 Nov; 77(5): 795–806. Published online 2005 Sep 29. doi: 10.1086/497708
PMCID:
PMC1271388
ArticlePDF–2.9M

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