يعرض 1 - 13 نتائج من 13 نتيجة بحث عن '"PPP1R12A"', وقت الاستعلام: 0.51s تنقيح النتائج
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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal

    المساهمون: Benvenuto, G, Todeschini, P, Paracchini, L, Calura, E, Fruscio, R, Romani, C, Beltrame, L, Martini, P, Ravaggi, A, Ceppi, L, Sales, G, Donati, F, Perego, P, Zanotti, L, Ballabio, S, Grassi, T, Delle Marchette, M, Tognon, G, Sartori, E, Adorni, M, Odicino, F, D'Incalci, M, Bignotti, E, Romualdi, C, Marchini, S.

    وصف الملف: ELETTRONICO

    Relation: info:eu-repo/semantics/altIdentifier/pmid/32096871; info:eu-repo/semantics/altIdentifier/wos/WOS:000534818500028; volume:147; issue:2; firstpage:565; lastpage:574; journal:INTERNATIONAL JOURNAL OF CANCER; http://hdl.handle.net/11577/3340535; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081725228

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    Academic Journal

    المساهمون: Pediatrics, School of Medicine

    المصدر: PMC

    وصف الملف: application/pdf

    Relation: The American Journal of Human Genetics; Hughes, J. J., Alkhunaizi, E., Kruszka, P., Pyle, L. C., Grange, D. K., Berger, S. I., Payne, K. K., Masser-Frye, D., Hu, T., Christie, M. R., Clegg, N. J., Everson, J. L., Martinez, A. F., Walsh, L. E., Bedoukian, E., Jones, M. C., Harris, C. J., Riedhammer, K. M., Choukair, D., … Chitayat, D. (2020). Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. The American Journal of Human Genetics, 106(1), 121–128. https://doi.org/10.1016/j.ajhg.2019.12.004; https://hdl.handle.net/1805/24376

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    المساهمون: Benvenuto, G, Todeschini, P, Paracchini, L, Calura, E, Fruscio, R, Romani, C, Beltrame, L, Martini, P, Ravaggi, A, Ceppi, L, Sales, G, Donati, F, Perego, P, Zanotti, L, Ballabio, S, Grassi, T, Marchette, M, Tognon, G, Sartori, E, Adorni, M, Odicino, F, D'Incalci, M, Bignotti, E, Romualdi, C, Marchini, S

    وصف الملف: ELETTRONICO

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    Electronic Resource