학술논문

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'학술논문' 에서 검색결과 122건 | 목록 1~10
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Begemann, Anaïs; Oneda, Beatrice; Baumer Wolz, Alessandra; Guldimann, Marina; Tutschek, Boris; Rauch, Anita (2022). A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers. European Journal of Medical Genetics, 65(12):104628.
Electronic Resource
Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer Wolz, Alessandra; Gerth-Kahlert, Christina; Tutschek, Boris; Rauch, Anita (2021). Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. American Journal of Medical Genetics. Part A, 185(8):2546-2560.
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[검색어] Tutschek, Boris
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