Ohcanbohtosat - Ulrike Siebers‐Renelt
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47 patients with FLNA associated periventricular nodular heterotopia Dahkki Max Lange, Burkhard S. Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, A. Ferbert, Andreas Hahn, Barbara Oehl‐Jaschkowitz, Luitgard Graul‐Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers‐Renelt, Ana Beleza‐Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Jürgen Winkler, Gerhard Schuierer, Ute Hehr
Almmustuhtton 2015Artigo -
2
Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability Dahkki Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, M.W. Wessels, P J Willems, Peter Bjødstrup Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt‐Robinson, Maja Linné, Patricia Martín, James McGrath, Winnie Pradel, Katrina Prescott, Bernd Roesler, Goražd Rudolf, Ulrike Siebers‐Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, G. Wolff, William B. Dobyns, Deborah Morris‐Rosendahl
Almmustuhtton 2012Artigo -
3
Breast cancer risk in <i>BRCA1/2</i> mutation carriers and noncarriers under prospective intensified surveillance Dahkki Christoph Engel, Christine Fischer, Silke Zachariae, Karolin Bucksch, Kerstin Rhiem, J Giesecke, N Herold, Barbara Wappenschmidt, Verena Hübbel, Monika Maringa, S Reichstein-Gnielinski, Eric Hahnen, Claus R. Bartram, Nicola Dikow, Sarah Schott, Dorothee Speiser, Denise Horn, Eva Maria Fallenberg, Marion Kiechle, Anne S. Quante, Anne‐Sophie Vesper, Tanja Fehm, Christoph Mundhenke, Norbert Arnold, Elena Leinert, Walter Just, Ulrike Siebers‐Renelt, Stefanie Weigel, Andrea Gehrig, Achim Wöckel, Brigitte Schlegelberger, Stefanie Pertschy, Karin Kast, Pauline Wimberger, Susanne Briest, Markus Loeffler, Ulrich Bick, Rita K. Schmutzler
Almmustuhtton 2019Artigo -
4
Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Dahkki Partha Sen, Yaping Yang, C. Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra L. Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda R. Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John K. Petty, Zeina Kiblawi, Craig W. Zuppan, Allyn McConkie‐Rosell, Marie McDonald, Stacey L. Peterson‐Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe Friedlich, Stephen R. Hays, Irene Valenzuela, Ulrike Siebers‐Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane E. Brumbaugh, Kari E. Roberts, Luk Ho-Ming, Ivan F. M. Lo, Stephen T.S. Lam, Romana Gerychová, Marta Ježová, Iveta Valášková, Florence Fellmann, Katayoun Afshar, Éric Giannoni, Vincent Muhlethaler, Jinlong Liang, J. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw‐Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barréa, Christine Galant, Thierry Detaille, Jennifer Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael Baker, Claire Langston, Stephen E. Welty, Paweł Stankiewicz
Almmustuhtton 2013Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Genetics
Gene
Medicine
Mutation
Internal medicine
Pathology
Phenotype
Agenesis of the corpus callosum
Anatomy
Bioinformatics
Breast cancer
Cancer
Cell
Cerebellar hypoplasia (non-human)
Cerebellum
Ciliopathy
Cohort
Corpus callosum
Cytoskeleton
Dysplasia
Exon
FLNA
Filamin
Frameshift mutation
Genome
Gynecology
Haploinsufficiency
Hypoplasia
Joubert syndrome