Sökresultat - Bohring, Axel

Novel genetic findings av Bohring, Axel

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Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome av Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines

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WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes av Bohring, Axel, Stamm, Thomas, Spaich, Christiane, Haase, Claudia, Spree, Kerstin, Hehr, Ute, Hoffmann, Mandy, Ledig, Susanne, Sel, Saadettin, Wieacker, Peter, Röpke, Albrecht

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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics av Wildhardt, Gabriele, Zirn, Birgit, Graul-Neumann, Luitgard M, Wechtenbruch, Juliane, Suckfüll, Markus, Buske, Annegret, Bohring, Axel, Kubisch, Christian, Vogt, Stefanie, Strobl-Wildemann, Gertrud, Greally, Marie, Bartsch, Oliver, Steinberger, Daniela

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The Face of Noonan Syndrome: Does Phenotype Predict Genotype av Allanson, Judith E., Bohring, Axel, Dorr, Helmuth-Guenther, Dufke, Andreas, Gillessen-Kaesbach, Gabrielle, Horn, Denise, König, Rainer, Kratz, Christian P., Kutsche, Kerstin, Pauli, Silke, Raskin, Salmo, Rauch, Anita, Turner, Anne, Wieczorek, Dagmar, Zenker, Martin

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Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome av Kaname, Tadashi , Yanagi, Kumiko , Chinen, Yasutsugu , Makita, Yoshio , Okamoto, Nobuhiko , Maehara, Hiroki , Owan, Ichiro , Kanaya, Fuminori , Kubota, Yoshiaki , Oike, Yuichi , Yamamoto, Toshiyuki , Kurosawa, Kenji , Fukushima, Yoshimitsu , Bohring, Axel , Opitz, John M. , Yoshiura, Ko-ichiro , Niikawa, Norio , Naritomi, Kenji 

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Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies av Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia av Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

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Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain av Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick, Garvin, Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Rob M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel

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