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Dominik Salachna

Memorial Hospital of South Bend

3

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Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

2021 Frontiers in Genetics
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Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.

2020 Molecular and Cellular Endocrinology
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New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

2020 Archives of Medical Science
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