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Publications by Jürgen Spranger
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Identification of biallelicLRRK1mutations in Osteosclerotic Metaphyseal Dysplasia and Evidence for Locus Heterogeneity
Journal of Medical Genetics
Genetics
TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
Genetics
Severely Incapacitating Mutations in Patients With Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator
American Journal of Human Genetics
Genetics
Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
American Journal of Human Genetics
Genetics
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