檢索結果 - Cornelia Daumer‐Haas

  • Showing 1 - 7 results of 7
Refine Results
  1. 1
    Multiplex-FISH for Pre- and Postnatal Diagnostic Applications

    Multiplex-FISH for Pre- and Postnatal Diagnostic Applications 由 Sabine Uhrig, Simone Schuffenhauer, Christine Fauth, Antje Wirtz, Cornelia Daumer‐Haas, Can Apacik, Monika Cohen, Jutta Müller‐Navia, Thomas Cremer, Jan Murken, Michael R. Speicher

    出版 1999
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

    Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly 由 Ute Hehr, Daniel Pineda‐Alvarez, Goekhan Uyanik, Ping Hu, Nan Zhou, Andreas Hehr, Chayim Schell-Apacik, Carola Altus, Cornelia Daumer‐Haas, A Meiner, Peter Steuernagel, Erich Roessler, Jürgen Winkler, Maximilian Muenke

    出版 2010
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

    Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation 由 Alexandra Stavsky, Ohad Stoler, Marko Kostić, Tomer Katoshevsky, Essam A. Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer‐Haas, Ilya A. Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler

    出版 2021
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation 由 Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer‐Haas, Björn Fischer‐Zirnsak, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne B. Mitchell, Stefan Mundlos, John A. Phillips, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter Krawitz

    出版 2014
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

    Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes 由 Christian P. Kratz, Lude Franke, Harm Peters, Nicolai Kohlschmidt, Beata Kaźmierczak, Ulrich Finckh, August Bier, Birgit Eichhorn, Christian U. Blank, Cornelia Kraus, Jürgen Kohlhase, Silke Pauli, G. Wildhardt, Kerstin Kutsche, Bernd Auber, Alexander Christmann, Nadine Bachmann, Diana Mitter, F. W. Cremer, Karin Mayer, Cornelia Daumer‐Haas, Claudia Nevinny‐Stickel‐Hinzpeter, Frank Oeffner, Gregor Schlüter, Martin Genčík, B Überlacker, Christina Lißewski, Ina Schanze, Mark H. Greene, Claudia Spix, Martin Zenker

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction 由 Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders 由 Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    出版 2022
    獲取全文
    Pré-impressão
    加到收藏夾
    Saved in:

檢索工具: