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Karina C. Silveira

State University of Campinas

5

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Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.

2021 American Journal of Medical Genetics Part C-seminars in Medical Genetics
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Skeletal dysplasias in Latin America.

2020 American Journal of Medical Genetics Part C-seminars in Medical Genetics
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Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122

2017 American Journal of Medical Genetics Part A
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