Search Results - Martinez-Agosto, JA

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  1. 1
    Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation

    Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation by Truscott, Laurel, Gell, Joanna, Chang, Vivian Y., Lee, Hane, Strom, Samuel P., Pillai, Rex, Sisk, Anthony, Martinez‐Agosto, Julian A., Anderson, Martin, Federman, Noah

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  2. 2
    Towards better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations

    Towards better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations by Uljarević, M, Frazier, TW, Rached, G, Busch, RM, Klaas, P, Srivastava, S, Martinez-Agosto, JA, Sahin, M, Eng, C, Hardan, AY

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    CRANIOFACIAL ANOMALIES, PTOSIS, AGENESIS OF THE CORPUS CALLOSUM, AND DEVELOPMENTAL DELAY ASSOCIATED WITH LOSS OF FUNCTION VARIANTS IN ZNF462 : HUMANS AND ZEBRAFISH

    CRANIOFACIAL ANOMALIES, PTOSIS, AGENESIS OF THE CORPUS CALLOSUM, AND DEVELOPMENTAL DELAY ASSOCIATED WITH LOSS OF FUNCTION VARIANTS IN ZNF462 : HUMANS AND ZEBRAFISH by Kruszka, P, Hu, T, Martinez-Agosto, JA, Signer, R, Jurgens, J, Engle, EC, Hartley, T, Boycott, KM, Fannemel, M, Beck, N, Ghali, N, Anderlid, BM, Lundin, J, Ghedia, S, Bartley, CM, Spillmann, RC, Wigby, K, Giltay, JC, van Gassen, KLI, Brigatti, KW, Mazzola, S, Zackai, EH, Hong, SK, Hamosh, A, Jones, MC, Weiss, K, Muenke, M

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