Benutzer: Gast  Login
Mehr Felder
Einfache Suche
Sortieren nach:
und:
Mehr ...

Lorenz, Robin;Ahting, Uwe;Betzler, Cornelia;Heimering, Sigrid;Borggräfe, Ingo;Lange-Sperandio, Bärbel
Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.
Nephron
2020
144
3
156-160

Mehr ...

Senderek, Jan;Lassuthova, Petra;Kabzińska, Dagmara;Abreu, Lisa;Baets, Jonathan;Beetz, Christian;Braathen, Geir J;Brenner, David;Dalton, Joline;Dankwa, Lois;Deconinck, Tine;De Jonghe, Peter;Dräger, Bianca;Eggermann, Katja;Ellis, Melina;Fischer, Carina;Stojkovic, Tanya;Herrmann, David N;Horvath, Rita;Høyer, Helle;Iglseder, Stephan;Kennerson, Marina;Kinslechner, Katharina;Kohler, Jennefer N;Kurth, Ingo;Laing, Nigel G;Lamont, Phillipa J;Wolfgang N, Löscher;Ludolph, Albert;Marques, Wilson;Nicholson, Garth;Ong, Royston;Petri, Susanne;Ravenscroft, Gianina;Rebelo, Adriana;Ricci, Giulia;Rudnik-Schöneborn, Sabine;Schirmacher, Anja;Schlotter-Weigel, Beate;Schoels, Ludger;Schüle, Rebecca;Synofzik, Matthis;Francou, Bruno;Strom, Tim M;Wagner, Johannes;Walk, David;Wanschitz, Julia;Weinmann, Daniela;Weishaupt, Jochen;Wiessner, Manuela;Windhager, Reinhard;Young, Peter;Züchner, Stephan;Toegel, Stefan;Seeman, Pavel;Kochański, Andrzej;Auer-Grumbach, Michaela
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
2020
95
24
e3163-e3179

Mehr ...

Lenz, Dominic;Stahl, Mirjam;Seidl, Elias;Schöndorf, Dominik;Brennenstuhl, Heiko;Gesenhues, Florian;Heinzmann, Tina;Longerich, Thomas;Mendes, Marisa I;Prokisch, Holger;Salomons, Gajja S;Schön, Carola;Smith, Desirée E C;Sommerburg, Olaf;Wagner, Matias;Westhoff, Jens H;Reiter, Karl;Staufner, Christian;Griese, Matthias
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Pediatr Pulmonol
2020
55
11
3057-3066

Mehr ...

Marten, Lara M;Brinkert, Florian;Smith, Desirée E C;Prokisch, Holger;Hempel, Maja;Santer, René
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.
Mol Genet Metab Rep
2020
25

Mehr ...

Zhang, Rong;Gehlen, Jan;Kawalia, Amit;Melissari, Maria-Theodora;Dakal, Tikam Chand;Menon, Athira M;Höfele, Julia;Riedhammer, Korbinian;Waffenschmidt, Lea;Fabian, Julia;Breuer, Katinka;Kalanithy, Jeshurun;Hilger, Alina Christine;Sharma, Amit;Hölscher, Alice;Boemers, Thomas M;Pauly, Markus;Leutner, Andreas;Fuchs, Jörg;Seitz, Guido;Ludwikowski, Barbara M;Gomez, Barbara;Hubertus, Jochen;Heydweiller, Andreas;Kurz, Ralf;Leonhardt, Johannes;Kosch, Ferdinand;Holland-Cunz, Stefan;Münsterer, Oliver;Ure, Beno;Schmiedeke, Eberhard;Neser, Jörg;Degenhardt, Petra;Märzheuser, Stefanie;Kleine, Katharina;Schäfer, Mattias;Spychalski, Nicole;Deffaa, Oliver J;Gosemann, Jan-Hendrik;Lacher, Martin;Heilmann-Heimbach, Stefanie;Zwink, Nadine;Jenetzky, Ekkehart;Ludwig, Michael;Grote, Phillip;Schumacher, Johannes;Thiele, Holger;Reutter, Heiko
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
PLoS ONE
2020
15
6

Mehr ...

Lin, Shu-Hong;Sampson, Joshua N;Grünewald, Thomas G P;Surdez, Didier;Reynaud, Stephanie;Mirabeau, Olivier;Karlins, Eric;Rubio, Rebeca Alba;Zaidi, Sakina;Grossetête-Lalami, Sandrine;Ballet, Stelly;Lapouble, Eve;Laurence, Valérie;Michon, Jean;Pierron, Gaelle;Kovar, Heinrich;Kontny, Udo;González-Neira, Anna;Alonso, Javier;Patino-Garcia, Ana;Corradini, Nadège;Bérard, Perrine Marec;Miller, Jeremy;Freedman, Neal D;Rothman, Nathaniel;Carter, Brian D;Dagnall, Casey L;Burdett, Laurie;Jones, Kristine;Manning, Michelle;Wyatt, Kathleen;Zhou, Weiyin;Yeager, Meredith;Cox, David G;Hoover, Robert N;Khan, Javed;Armstrong, Gregory T;Leisenring, Wendy M;Bhatia, Smita;Robison, Leslie L;Kulozik, Andreas E;Kriebel, Jennifer;Meitinger, Thomas;Metzler, Markus;Krumbholz, Manuela;Hartmann, Wolfgang;Strauch, Konstantin;Kirchner, Thomas;Dirksen, Uta;Mirabello, Lisa;Tucker, Margaret A;Tirode, Franck;Morton, Lindsay M;Chanock, Stephen J;Delattre, Olivier;Machiela, Mitchell J
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.
PLoS ONE
2020
15
9

Mehr ...

Kotzaeridou, Urania;Young-Baird, Sara K;Suckow, Vanessa;Thornburg, Alexis G;Wagner, Matias;Harting, Inga;Christ, Stine;Strom, Tim;Dever, Thomas E;Kalscheuer, Vera M
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Clin Genet
2020
98
5
507-514

Mehr ...

Wijeyeratne, Yanushi D;Tanck, Michael W;Mizusawa, Yuka;Batchvarov, Velislav;Barc, Julien;Crotti, Lia;Bos, J Martijn;Tester, David J;Muir, Alison;Veltmann, Christian;Ohno, Seiko;Page, Stephen P;Galvin, Joseph;Tadros, Rafik;Muggenthaler, Martina;Raju, Hariharan;Denjoy, Isabelle;Schott, Jean-Jacques;Gourraud, Jean-Baptiste;Skoric-Milosavljevic, Doris;Nannenberg, Eline A;Redon, Richard;Papadakis, Michael;Kyndt, Florence;Dagradi, Federica;Castelletti, Silvia;Torchio, Margherita;Meitinger, Thomas;Lichtner, Peter;Ishikawa, Taisuke;Wilde, Arthur A M;Takahashi, Kazuhiro;Sharma, Sanjay;Roden, Dan M;Borggrefe, Martin M;McKeown, Pascal P;Shimizu, Wataru;Horie, Minoru;Makita, Naomasa;Aiba, Takeshi;Ackerman, Michael J;Schwartz, Peter J;Probst, Vincent;Bezzina, Connie R;Behr, Elijah R
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Circ Genom Precis Med
2020
13
6
599-608

Mehr ...

Zhou, Ling;Deng, Jie;Stenton, Sarah L;Zhou, Ji;Li, Hua;Chen, Chunhong;Prokisch, Holger;Fang, Fang
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency.
Front Pharmacol
2020
11

Mehr ...

Salminen, Aaro V;Schandra, Nathalie;Schormair, Barbara;Oexle, Konrad;Winkelmann, Juliane
Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome.
J Clin Sleep Med
2020
16
10
1815-1817