Analysis of the PRNP gene polymorphisms in healthy Greek sheep during 2012 – 2016 von BOUKOUVALA, E., KATHAROPOULOS, E., CHRISTOFORIDOU, S., BABETSA, M., EKATERINIADOU, L. V.

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Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia von Katharopoulos, Efstathios, Di Iorgi, Natascia, Fernandez-Alvarez, Paula, Pandey, Amit, Groessl, Michael, Dubey, Shraddha, Camats, Nuria, Napoli, Flavia, Patti, Giuseppa, Lezzi, Marilea, Maghnie, Mohamad, Fluck, Christa E.

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In silico and in vitro Studies of Human 5α‐reductase Type II Reveal New Loss of Function Variants von Katharopoulos, Efstathios, Sauter, Kay‐Sara, Pandey, Amit V, Flück, Christa E

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In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity von Katharopoulos, Efstathios, Sauter, Kay, Pandey, Amit V., Flück, Christa E.

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Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function von Praveen, Valiyaparambil Pavithran, Ladjouze, Asmahane, Sauter, Kay-Sara, Pulickal, Annie, Katharopoulos, Efstathios, Trippel, Mafalda, Perren, Aurel, Pandey, Amit V, Flück, Christa E

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