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2by Powell, Christopher A., Kopajtich, Robert, D’Souza, Aaron R., Rorbach, Joanna, Kremer, Laura S., Husain, Ralf A., Dallabona, Cristina, Donnini, Claudia, Alston, Charlotte L., Griffin, Helen, Pyle, Angela, Chinnery, Patrick F., Strom, Tim M., Meitinger, Thomas, Rodenburg, Richard J., Schottmann, Gudrun, Schuelke, Markus, Romain, Nadine, Haller, Ronald G., Ferrero, Ileana, Haack, Tobias B., Taylor, Robert W., Prokisch, Holger, Minczuk, MichalGet full text
Published in American journal of human genetics
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6by Pinós, Tomàs, Andreu, Antoni L, Bruno, Claudio, Hadjigeorgiou, Georgios M, Haller, Ronald G, Laforêt, Pascal, Lucía, Alejandro, Martín, Miguel A, Martinuzzi, Andrea, Navarro, Carmen, Oflazer, Piraye, Pouget, Jean, Quinlivan, Ros, Sacconi, Sabrina, Scalco, Renata S, Toscano, Antonio, Vissing, John, Vorgerd, Matthias, Wakelin, Andrew, Martí, RamonGet full text
Published in Orphanet journal of rare diseases
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8by Sharma, Rohit, Reinstadler, Bryn, Engelstad, Kristin, Skinner, Owen S, Stackowitz, Erin, Haller, Ronald G, Clish, Clary B, Pierce, Kerry, Walker, Melissa A, Fryer, Robert, Oglesbee, Devin, Mao, Xiangling, Shungu, Dikoma C, Khatri, Ashok, Hirano, Michio, De Vivo, Darryl C, Mootha, Vamsi KGet full text
Published in The Journal of clinical investigation
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9by Madsen, Karen L., Laforêt, Pascal, Buch, Astrid E., Stemmerik, Mads G., Ottolenghi, Chris, Hatem, Stéphane N., Raaschou‐Pedersen, Daniel T., Poulsen, Nanna S., Atencio, Maria, Luton, Marie‐Pierre, Ceccaldi, Alexandre, Haller, Ronald G., Quinlivan, Ros, Mochel, Fanny, Vissing, JohnGet full text
Published in Annals of clinical and translational neurology
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11by Heinicke, Katja, Dimitrov, Ivan E, Romain, Nadine, Cheshkov, Sergey, Ren, Jimin, Malloy, Craig R, Haller, Ronald GGet full text
Published in PloS one
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14by Tyynismaa, Henna, Ylikallio, Emil, Patel, Mehul, Molnar, Maria J., Haller, Ronald G., Suomalainen, AnuGet full text
Published in American journal of human genetics
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20Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotypeby Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.Get full text
Published in American journal of human genetics
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