檢索結果 - Katalin Szakszon

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    Priority-setting criteria for clinical practice guideline development on rare genetic neurodevelopmental disorders: a Delphi study within the European Reference Network (ERN) ITHACA

    Priority-setting criteria for clinical practice guideline development on rare genetic neurodevelopmental disorders: a Delphi study within the European Reference Network (ERN) ITHAC... 由 Mirthe J Klein Haneveld, Michiel S. Oerbekke, Katalin Szakszon, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen

    出版 2025
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    <i>POLD1</i>Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    <i>POLD1</i>Germline Mutations in Patients Initially Diagnosed with Werner Syndrome 由 Davor Lessel, Fuki M. Hisama, Katalin Szakszon, Bidisha Saha, Alexander Barrios Sanjuanelo, Bonnie Anne Salbert, Pamela D. Steele, Jennifer Baldwin, W. Ted Brown, C Piussan, Henri Plauchu, Judit Szilvássy, Edit Horkay, Josef Högel, George M. Martin, Alan J. Herr, Junko Oshima, Christian Kubisch

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer

    KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer 由 Laia Simó‐Riudalbas, Montserrat Pérez-Salvia, Fernando Setién, Alberto Villanueva, Cátia Moutinho, Anna Martínez‐Cardús, Sebastián Morán, María Berdasco, Antonio Gómez, Enrique Vidal, Marta Soler, Holger Heyn, Alejandro Vaquero, Carolina de la Torre, Sílvia Barceló-Batllori, August Vidal, Luca Roz, Ugo Pastorino, Katalin Szakszon, Guntram Borck, Conceição Souto Moura, Fátima Carneiro, Ilse Zondervan, Suvi Savola, Reika Iwakawa, Takashi Kohno, Jun Yokota, Manel Esteller

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome 由 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

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement 由 Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    出版 2024
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders 由 Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    出版 2025
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: