檢索結果 - Koehler, Udo

Clinical utility gene card for: Williams–Beuren Syndrome [7q11.23] 由 Koehler, Udo, Pabst, Brigitte, Pober, Barbara, Kozel, Beth

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Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study 由 Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara

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A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies 由 Boeckelmann, Doris, Wolter, Mira, Käsmann-Kellner, Barbara, Koehler, Udo, Schieber-Nakamura, Lea, Zieger, Barbara

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Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes 由 Coci, Emanuele G., Koehler, Udo, Liehr, Thomas, Stelzner, Armin, Fink, Christian, Langen, Hendrik, Riedel, Joachim

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Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome 由 Hallermayr, Ariane, Graf, Janine, Koehler, Udo, Laner, Andreas, Schönfeld, Brigitte, Benet‐Pagès, Anna, Holinski‐Feder, Elke

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CD133 induces tumour-initiating properties in HEK293 cells 由 Canis, Martin, Lechner, Axel, Mack, Brigitte, Zengel, Pamela, Laubender, Rüdiger Paul, Koehler, Udo, Heissmeyer, Vigo, Gires, Olivier

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes 由 Morak, Monika, Schaefer, Kerstin, Steinke-Lange, Verena, Koehler, Udo, Keinath, Susanne, Massdorf, Trisari, Mauracher, Brigitte, Rahner, Nils, Bailey, Jessica, Kling, Christiane, Haeusser, Tanja, Laner, Andreas, Holinski-Feder, Elke

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity 由 Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU 由 Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril

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