Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study von 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 von 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 von Coci, Emanuele G, Koehler, Udo, Liehr, Thomas, Stelzner, Armin, Fink, Christian, Langen, Hendrik, Riedel, Joachim

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity von 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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Präkonzeptionsscreening von Courage, Carolina, Koehler, Udo, Kleinle, Stephanie, Neuhann, Teresa, Holinski-Feder, Elke, Abicht, Angela

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CD133 is a predictor of poor survival in head and neck squamous cell carcinomas von Canis, Martin, Lechner, Axel, Mack, Brigitte, Zengel, Pamela, Laubender, Rüdiger Paul, Koehler, Udo, Heissmeyer, Vigo, Gires, Olivier

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Genome Mapping Nomenclature von Moore, Sarah, McGowan-Jordan, Jean, Smith, Adam C., Rack, Katrina, Koehler, Udo, Stevens-Kroef, Marian, Barseghyan, Hayk, Kanagal-Shamanna, Rashmi, Hastings, Ros

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes von 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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Single Cell Analysis of Mutations in the APC Gene von Mayer, Veronika, Schoen, Ulrike, Holinski-Feder, Elke, Koehler, Udo, Thalhammer, Stefan

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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method von Barseghyan, Hayk, Eisenreich, Doris, Lindt, Evgenia, Wendlandt, Martin, Scharf, Florentine, Benet-Pages, Anna, Sendelbach, Kai, Neuhann, Teresa, Abicht, Angela, Holinski-Feder, Elke, Koehler, Udo

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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group von Morak, Monika, Pineda, Marta, Martins, Alexandra, Gaildrat, Pascaline, Tubeuf, Hélène, Drouet, Aurélie, Gómez, Carolina, Dámaso, Estela, Schaefer, Kerstin, Steinke-Lange, Verena, Koehler, Udo, Laner, Andreas, Hauchard, Julie, Chauris, Karine, Holinski-Feder, Elke, Capellá, Gabriel

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

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU von 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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Novel mutation in two brothers with Hermansky Pudlak syndrome type 3 von Sandrock-Lang, Kirstin, Bartsch, Ingrid, Buechele, Nina, Koehler, Udo, Simon-Gabriel, Carl Philipp, Eckenweiler, Matthias, Zieger, Barbara

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Phenotypic spectrum associated with CASK loss-of-function mutations von Moog, Ute, Kutsche, Kerstin, Kortüm, Fanny, Chilian, Bettina, Bierhals, Tatjana, Apeshiotis, Neophytos, Balg, Stefanie, Chassaing, Nicolas, Coubes, Christine, Das, Soma, Engels, Hartmut, Van Esch, Hilde, Grasshoff, Ute, Heise, Marisol, Isidor, Bertrand, Jarvis, Joanna, Koehler, Udo, Martin, Thomas, Oehl-Jaschkowitz, Barbara, Ortibus, Els, Pilz, Daniela T, Prabhakar, Prab, Rappold, Gudrun, Rau, Isabella, Rettenberger, Günther, Schlüter, Gregor, Scott, Richard H, Shoukier, Moonef, Wohlleber, Eva, Zirn, Birgit, Dobyns, William B, Uyanik, Gökhan

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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome von Morak, Monika, Koehler, Udo, Schackert, Hans Konrad, Steinke, Verena, Royer-Pokora, Brigitte, Schulmann, Karsten, Kloor, Matthias, Höchter, Wilhelm, Weingart, Josef, Keiling, Cortina, Massdorf, Trisari, Holinski-Feder, Elke

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Genomic reorganization and disrupted chromosomal synteny in the siamang (Hylobates syndactylus) revealed by fluorescence in situ hybridization von Koehler, Udo, Arnold, Norbert, Wienberg, Johannes, Tofanelli, Sergio, Stanyon, Roscoe

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

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? von Dikow, Nicola, Maas, Bianca, Gaspar, Harald, Kreiss-Nachtsheim, Martina, Engels, Hartmut, Kuechler, Alma, Garbes, Lutz, Netzer, Christian, Neuhann, Teresa M., Koehler, Udo, Casteels, Kristina, Devriendt, Koen, Janssen, Johannes W.G., Jauch, Anna, Hinderhofer, Katrin, Moog, Ute

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

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