Bilaketaren emaitzak - Schrander-Stumpel, Connie

The causality of de novo copy number variants is overestimated nork Vermeesch, Joris R, Balikova, Irina, Schrander-Stumpel, Connie, Fryns, Jean-Pierre, Devriendt, Koenraad

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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA nork Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.

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Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation nork Hayflick, Susan J., Kruer, Michael C., Gregory, Allison, Haack, Tobias B., Kurian, Manju A., Houlden, Henry H., Anderson, James, Boddaert, Nathalie, Sanford, Lynn, Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Holden, Kenton R., Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Mignot, Cyril, Héron, Delphine, Saunders, Dawn E., Kaminska, Margaret, Lin, Jean-Pierre, Lascelles, Karine, Cuno, Stephan M., Meyer, Esther, Garavaglia, Barbara, Bhatia, Kailash, de Silva, Rajith, Crisp, Sarah, Lunt, Peter, Carey, Martyn, Hardy, John, Meitinger, Thomas, Prokisch, Holger, Hogarth, Penelope

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