|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 7
Zeitschriftenartikel
Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; Zwaag, Bert van der; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc, Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger und Moller, Rikke S.
(2022):
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
In: Brain, Bd. 145, Nr. 9: S. 2991-3009
Appelhof, Bart; Wagner, Matias; Hoefele, Julia; Heinze, Anja; Roser, Timo; Koch-Hogrebe, Margarete; Roosendaal, Stefan D.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Torti, Erin; Houlden, Henry; Maroofian, Reza; Rajabi, Farrah; Sticht, Heinrich; Baas, Frank; Wieczorek, Dagmar und Abou Jamra, Rami
(2020):
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
In: European Journal of Human Genetics, Bd. 29, Nr. 3: S. 411-421
Averdunk, Luisa; Bernhagen, Jürgen; Fehnle, Karl; Surowy, Harald; Luedecke, Hermann-Josef; Mucha, Soeren; Meybohm, Patrick; Wieczorek, Dagmar; Leng, Lin; Marx, Gernot; Leaf, David E.; Zarbock, Alexander; Zacharowski, Kai; Bucala, Richard und Stoppe, Christian
(2020):
TheMacrophage Migration Inhibitory Factor(MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery.
In: Journal of Clinical Medicine, Bd. 9, Nr. 9, 2936
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas
(2015):
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509
Rivera-Brugués, Nuria; Albrecht, Beate; Wieczorek, Dagmar; Schmidt, Heinrich; Keller, Thomas; Göhring, Ina; Ekici, Arif B.; Tzschach, Andreas; Garshasbi, Masoud; Franke, Kathlen; Klopp, Norman; Wichmann, Heinz-Erich; Meitinger, Thomas; Strom, Tim M. und Hempel, Maja
(Februar 2011):
Cohen syndrome diagnosis using whole genome arrays.
In: Journal of medical genetics, Bd. 48, Nr. 2: S. 136-140
[PDF, 423kB]
Solomon, Benjamin D.; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J.; Delgado, Mauricio R.; Rosenbaum, Kenneth; Dubourg, Christele; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J.; Hardisty, Emily; Tylki-Szymanska, Anna; Pronicka, Ewa; Clemens, Michelle; McPherson, Elizabeth; Hennekam, Raoul C. M.; Hahn, Jin; Stashinko, Elaine; Levey, Eric; Wieczorek, Dagmar; Roeder, Elizabeth; Schell-Apacik, Chayim Can; Booth, Carol W.; Thomas, Ronald L.; Kenwrick, Sue; Cummings, Derek A. T.; Bous, Sophia M.; Keaton, Amelia; Balog, Joan Z.; Hadley, Donald; Zhou, Nan; Long, Robert; Velez, Jorge I.; Pineda-Alvarez, Daniel E.; Odent, Sylvie; Roessler, Erich und Muenke, Maximilian
(2010):
Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
In: Journal of Medical Genetics, Bd. 47, Nr. 8: S. 513-524
[PDF, 943kB]
Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; Burgt, Ineke van der; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Kock, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Schnakenburg, Christian von; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph und Kutsche, Kerstin
(2007):
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
In: Journal of Medical Genetics, Bd. 44: S. 651-656
[PDF, 1MB]