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  1. 1
    Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

    Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications von Janecke, Andreas R., Xu, Ruijuan, Steichen‐Gersdorf, Elisabeth, Waldegger, Siegfried, Entenmann, Andreas, Giner, Thomas, Krainer, Iris, Huber, Lukas A, Hess, Michael W, Frishberg, Yaacov, Barash, Hila, Tzur, Shay, Schreyer‐Shafir, Nira, Sukenik–Halevy, Rivka, Zehavi, Tania, Raas‐Rothschild, Annick, Mao, Cungui, Müller, Thomas

    Veröffentlicht in Human mutation

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  2. 2
    Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease

    Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease von Schreyer-Shafir, Nira, Sukenik-Halevy, Rivka, Tepper, Ronnie, Arnon, Schmuel, Litmanovitch, Itta, Eliakim, Alon, Pommeranz, Avishalom, Ludman, Mark David, Raas-Rothschild, Annick

    Veröffentlicht in Prenatal diagnosis

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  3. 3
    A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

    A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics von Schreyer-Shafir, Nira, Huizing, Marjan, Anikster, Yair, Nusinker, Ziva, Bejarano-Achache, Idit, Maftzir, Genia, Resnik, Luba, Helip-Wooley, Amanda, Westbroek, Wendy, Gradstein, Libe, Rosenmann, Ada, Blumenfeld, Anat

    Veröffentlicht in Human mutation

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