Search Results - Jacoszek, A.

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  1. 1
    A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

    A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa by Szczałuba, K., Szymańska, K., Rydzanicz, M., Ciara, E., Walczak, A., Piekutowska‐Abramczuk, D., Kosińska, J., Jacoszek, A., Czerska, K., Biernacka, A., Laure‐Kamionowska, M., Gasperowicz, P., Pronicka, E., Płoski, R.

    Published in Clinical genetics
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  2. 2
    Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

    Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases by Pronicka, Ewa, Ciara, Elżbieta, Halat, Paulina, Janiec, Agnieszka, Wójcik, Marek, Rowińska, Elżbieta, Rokicki, Dariusz, Płudowski, Paweł, Wojciechowska, Ewa, Wierzbicka, Aldona, Książyk, Janusz B., Jacoszek, Agnieszka, Konrad, Martin, Schlingmann, Karl P., Litwin, Mieczysław

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  3. 3
    Advances in genetic hearing loss: CIB2 gene

    Advances in genetic hearing loss: CIB2 gene by Jacoszek, Agnieszka, Pollak, Agnieszka, Płoski, Rafał, Ołdak, Monika

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