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COENEN, Marieke J. H, HOFSTRA, Julia M, MATHIESON, Peter W, BRENCHLEY, Paul E, KLETA, Robert, WETZELS, Jack F. M, RONCO, Pierre, DEBIEC, Hanna, STANESCU, Horia C, MEDLAR, Alan J, STENGEL, Bénédicte, BOLAND-AUGE, Anne, GROOTHUISMINK, Johanne M, BOCKENHAUER, Detlef, POWIS, Steve H
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Published in Journal of the American Society of Nephrology (01.04.2013)
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Published in Annals of neurology (01.04.2013)
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Genetic testing in renal disease
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Published in Pediatric nephrology (Berlin, West) (01.06.2012)
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The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens
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Published in Genome Biology (19.11.2019)
Published in Genome Biology (19.11.2019)
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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
Published in Nephron (01.04.2013)
Published in Nephron (01.04.2013)
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Mutations in the autoregulatory domain of [beta]-tubulin 4a cause hereditary dystonia
Hersheson, Joshua, Mencacci, Niccolo E, Davis, Mary, MacDonald, Nicola, Trabzuni, Daniah, Ryten, Mina, Pittman, Alan, Paudel, Reema, Kara, Eleanna, Fawcett, Katherine, Plagnol, Vincent, Bhatia, Kailash P, Medlar, Alan J, Stanescu, Horia C, Hardy, John, Kleta, Robert, Wood, Nicholas W, Houlden, Henry
Published in Annals of neurology (01.04.2013)
Published in Annals of neurology (01.04.2013)
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Journal Article
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
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Published in Nephron (2015) (2012)
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Published in Nephron (2015) (2012)
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