Ohcanbohtosat - Renata Posmyk

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Aiddostahte ozu
  1. 1
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans Dahkki Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Almmustuhtton 2013
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  2. 2
    Antioxidant Properties of Zinc and Copper—Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers

    Antioxidant Properties of Zinc and Copper—Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers Dahkki Milena Matuszczak, Adam Kiljańczyk, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Tomasz Huzarski, Marcin Lener, Anna Jakubowska, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek‐Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Rafał Wiśniowski, Renata Posmyk, Joanna Jarkiewicz‐Tretyn, Rodney J. Scott, Jan Lubiński

    Almmustuhtton 2024
    Viečča ollesdeavstta Viečča ollesdeavstta
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  3. 3
    Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers

    Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers Dahkki Adam Kiljańczyk, Milena Matuszczak, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Krzysztof Lubiński, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Tomasz Huzarski, Marcin Lener, Anna Jakubowska, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek‐Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Rafał Wiśniowski, Renata Posmyk, Joanna Jarkiewicz‐Tretyn, Ping Sun, Rodney J. Scott, Steven A. Narod, Jan Lubiński

    Almmustuhtton 2024
    Viečča ollesdeavstta Viečča ollesdeavstta
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  4. 4
    Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers

    Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers Dahkki Milena Matuszczak, Adam Kiljańczyk, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Ping Sun, Angela Cheriyan, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Tomasz Huzarski, Marcin Lener, Anna Jakubowska, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek‐Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Rafał Wiśniowski, Renata Posmyk, Joanna Jarkiewicz‐Tretyn, Rodney J. Scott, Steven A. Narod, Jan Lubiński

    Almmustuhtton 2024
    Viečča ollesdeavstta Viečča ollesdeavstta
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  5. 5
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients Dahkki Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    Almmustuhtton 2020
    Viečča ollesdeavstta Viečča ollesdeavstta
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  6. 6
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects Dahkki Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    Almmustuhtton 2016
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    Revisão
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  7. 7
    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants Dahkki Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglæde, Diana Baralle, Daniela Q.C.M. Barge‐Schaapveld, Moira Blyth, Mieke C. Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valérie Cormier‐Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jørgensen, Sarina G. Kant, Cathy Kirally-Borri, David A. Koolen, Ajith Kumar, Anatália Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury‐Ecob, Daniela T. Pilz, Renata Posmyk, Carlos E. Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter D. Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra‐Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
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  8. 8
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Dahkki Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Almmustuhtton 2015
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