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Anzahl der Publikationen: 3
Zeitschriftenartikel
Schaenzer, Anne; Achleitner, Melanie T.; Truembach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, Rene G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schoeneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sanchez, Jacobo Perez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cedric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas und Weber, Axel
(2021):
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
In: Annals of Neurology, Bd. 90, Nr. 1: S. 143-158
[PDF, 7MB]
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger und Wortmann, Saskia
(2018):
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
In: Orphanet Journal of Rare Diseases
13:120
[PDF, 3MB]
Allanore, Yannick; Saad, Mohamad; Dieude, Philippe; Avouac, Jerome; Distler, Jorg H. W.; Amouyel, Philippe; Matucci-Cerinic, Marco; Riemekasten, Gabriella; Airo, Paolo; Melchers, Inga; Hachulla, Eric; Cusi, Daniele; Wichmann, Heinz-Erich; Wipff, Julien; Lambert, Jean-Charles; Hunzelmann, Nicolas; Tiev, Kiet; Caramaschi, Paola; Diot, Elisabeth; Kowal-Bielecka, Otylia; Valentini, Gabriele; Mouthon, Luc; Czirjak, Laszlo; Damjanov, Nemanja; Salvi, Erika; Conti, Costanza; Müller, Martina; Müller-Ladner, Ulf; Riccieri, Valeria; Ruiz, Barbara; Cracowski, Jean-Luc; Letenneur, Luc; Dupuy, Anne Marie; Meyer, Oliver; Kahan, Andre; Munnich, Arnold; Boileau, Catherine und Martinez, Maria
(Juli 2011):
Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB As Novel Risk Loci for Systemic Sclerosis.
In: PLOS Genetics 7(7), e1002091 [PDF, 2MB]
In: PLOS Genetics 7(7), e1002091 [PDF, 2MB]