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Anzahl der Publikationen: 3
Zeitschriftenartikel
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F. und Lenz, Dominic
(2020):
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
In: Genetics in Medicine, Bd. 22, Nr. 3: S. 610-621
Pinto, Alex; Evans, Sharon; Daly, Anne; Almeida, Manuela Ferreira; Assoun, Murielle; Belanger-Quintana, Amaya; Bernabei, Silvia Maria; Bollhalder, Sandra; Cassiman, David; Champion, Helena; Chan, Heidi; Corthouts, Karen; Dalmau, Jaime; Boer, Foekje de; Laet, Corinne de; Meyer, An de; Desloovere, An; Dianin, Alice; Dixon, Marjorie; Dokoupil, Katharina; Dubois, Sandrine; Eyskens, Francois; Faria, Ana; Fasan, Ilaria; Favre, Elisabeth; Feillet, Francois; Fekete, Anna; Gallo, Giorgia; Gingell, Cerys; Gribben, Joanna; Hansen, Kit Kaalund; Ter Horst, Nienke; Jankowski, Camille; Janssen-Regelink, Renske; Jones, Ilana; Jouault, Catherine; Kahrs, Gudrun Elise; Kok, Irene; Kowalik, Agnieszka; Laguerre, Catherine; Le Verge, Sandrine; Liguori, Alessandra; Lilje, Rina; Maddalon, Cornelia; Mayr, Doris; Meyer, Uta; Micciche, Avril; Och, Ulrike; Robert, Martine; Rocha, Julio Cesar; Rogozinski, Hazel; Rohde, Carmen; Ross, Kathleen; Saruggia, Isabelle; Schlune, Andrea; Singleton, Kath; Sjoqvist, Elisabeth; Skeath, Rachel; Stolen, Linn Helene; Terry, Allyson; Timmer, Corrie; Tomlinson, Lyndsey; Tooke, Alison; Vande Kerckhove, Kristel; Dam, Esther van; Hurk, Dorine van den; Ploeg, Liesbeth van der; Driessche, Marleen van; Rijn, Margreet van; Wegberg, Annemiek van; Vasconcelos, Carla; Vestergaard, Helle; Vitoria, Isidro; Webster, Diana; White, Fiona; White, Lucy; Zweers, Heidi und MacDonald, Anita
(2020):
Dietary practices in methylmalonic acidaemia: a European survey.
In: Journal of Pediatric Endocrinology & Metabolism, Bd. 33, Nr. 1: S. 147-155
Danecka, Marta K.; Woidy, Mathias; Zschocke, Johannes; Feillet, Francois; Muntau, Ania C. und Gersting, Søren W.
(2015):
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
In: Journal of Medical Genetics, Bd. 52, Nr. 3: S. 175-185
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