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Springer Publishing Company

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Rapid Detection of Common Mutations of the FGFR3 Gene Causing Thanatophoric Dysplasia Type I: Two Case Reports

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A Case of Compound Mutations in the MYBPC3 Gene Associated with Biventricular Hypertrophy and Neonatal Death

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Calpain-3 mutations in Turkey

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Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations

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