Arama Sonuçları - Kohlhase, Jürgen

Intracerebral hemorrhage in a young man Yazar: Coutts, Shelagh B., Matysiak-Scholze, Uta, Kohlhase, Jürgen, Innes, A. Micheil

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Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report Yazar: Nilius, Manfred, Kohlhase, Jürgen, Lorenzen, Johann, Lauer, Günter, Schulz, Matthias C.

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A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature Yazar: Rey, Linda K., Kohlhase, Jürgen, Möllenhoff, Katrin, Dekomien, Gabriele, Epplen, Jörg T., Hoffjan, Sabine

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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein Yazar: Böhm, Johann, Heinritz, Wolfram, Craig, Alexander, Vujic, Mihailo, Ekman-Joelsson, Britt-Marie, Kohlhase, Jürgen, Froster, Ursula

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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome Yazar: Distelmaier, Felix, Huppke, Peter, Pieperhoff, Peter, Amunts, Katrin, Schaper, Jörg, Morava, Eva, Mayatepek, Ertan, Kohlhase, Jürgen, Karenfort, Michael

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Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injection... Yazar: Lotz-Havla, Amelie S., Weiß, Katharina J., Schiergens, Katharina A., Brunet, Theresa, Kohlhase, Jürgen, Regenauer-Vandewiele, Stephanie, Maier, Esther M.

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Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids Yazar: Kraya, Torsten, Quandt, Dagmar, Pfirrmann, Thorsten, Kindermann, Andrea, Lampe, Leonie, Schroeter, Matthias L., Kohlhase, Jürgen, Stoevesandt, Dietrich, Hoffmann, Katrin, Villavicencio‐Lorini, Pablo

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Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice Yazar: Böhm, Johann, Buck, Anja, Borozdin, Wiktor, Mannan, Ashraf U., Matysiak-Scholze, Uta, Adham, Ibrahim, Schulz-Schaeffer, Walter, Floss, Thomas, Wurst, Wolfgang, Kohlhase, Jürgen, Barrionuevo, Francisco

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Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination Yazar: Vandewalle, Joke, Van Esch, Hilde, Govaerts, Karen, Verbeeck, Jelle, Zweier, Christiane, Madrigal, Irene, Mila, Montserrat, Pijkels, Elly, Fernandez, Isabel, Kohlhase, Jürgen, Spaich, Christiane, Rauch, Anita, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy

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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype Yazar: Hamilton, Alexander J, Bingham, Coralie, McDonald, Timothy J, Cook, Paul R, Caswell, Richard C, Weedon, Michael N, Oram, Richard A, Shields, Beverley M, Shepherd, Maggie, Inward, Carol D, Hamilton-Shield, Julian P, Kohlhase, Jürgen, Ellard, Sian, Hattersley, Andrew T

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Mutation of SALL2 causes recessive ocular coloboma in humans and mice Yazar: Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L., Jacques, Thomas S., Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J., Kohlhase, Jürgen, Nischal, Ken K., Sowden, Jane C.

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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Yazar: Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane

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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study Yazar: Cöktü, Sümeyye, Spix, Claudia, Kaiser, Melanie, Beygo, Jasmin, Kleinle, Stephanie, Bachmann, Nadine, Kohlschmidt, Nicolai, Prawitt, Dirk, Beckmann, Alf, Klaes, Ruediger, Nevinny-Stickel-Hinzpeter, Claudia, Döhnert, Steffi, Kraus, Cornelia, Kadgien, Gundula, Vater, Inga, Biskup, Saskia, Kutsche, Michael, Kohlhase, Jürgen, Eggermann, Thomas, Zenker, Martin, Kratz, Christian P.

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RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome Yazar: Basel-Vanagaite, Lina, Sarig, Ofer, Hershkovitz, Dov, Fuchs-Telem, Dana, Rapaport, Debora, Gat, Andrea, Isman, Gila, Shirazi, Idit, Shohat, Mordechai, Enk, Claes D., Birk, Efrat, Kohlhase, Jürgen, Matysiak-Scholze, Uta, Maya, Idit, Knopf, Carlos, Peffekoven, Anette, Hennies, Hans-Christian, Bergman, Reuven, Horowitz, Mia, Ishida-Yamamoto, Akemi, Sprecher, Eli

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Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome Yazar: Bozal-Basterra, Laura, Martín-Ruíz, Itziar, Pirone, Lucia, Liang, Yinwen, Sigurðsson, Jón Otti, Gonzalez-Santamarta, Maria, Giordano, Immacolata, Gabicagogeascoa, Estibaliz, de Luca, Angela, Rodríguez, Jose A., Wilkie, Andrew O.M., Kohlhase, Jürgen, Eastwood, Deborah, Yale, Christopher, Olsen, Jesper V., Rauchman, Michael, Anderson, Kathryn V., Sutherland, James D., Barrio, Rosa

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Yazar: Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Yazar: Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S., Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A., Rawson, Kristyn L., Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D. Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J. Guillen, Henderson, Lindsay B., Palculict, Timothy Blake, Mullegama, Sureni V., Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A., Wahl, Erica, Reis, André, Zweier, Christiane

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia Yazar: Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S, Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca

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Further delineation of the KAT6B molecular and phenotypic spectrum Yazar: Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill

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