Treffer 1 - 19 von 19 für Suche 'Van Gils, Nienke A.', Suchdauer: 1,56s Treffer weiter einschränken
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    Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy von Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Lam, Tanya, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Bartels, Claudius, Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Tucci, A., Watters, S.A., Welland, M.J., Williams, E., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger

    Veröffentlicht in Genetics in medicine

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  16. 16

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles von Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Hurst, Anna C.E., Kaiser, Frank J., Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simpson, Brittany N., Angius, Andrea, Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Klee, Eric W., Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Park, Soo-Mi, Patterson, Jennifer, Peeters, Hilde, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tedder, Matt, Terhal, Paulien, Tully, Ian, White, Susan M., Xiao, Bing, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

    Veröffentlicht in HGG advances

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    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 von Lin, Sheng-Jia, Orr, David, Holden, Simon, Harrison, Mike, Burrows, Nigel, Petree, Cassidy, Donnelly, Deirdre, Ambrose, J.C., Arumugam, P., Boardman-Pretty, F., Chan, G.C., Henderson, S., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Lopez, F.J., Maleady-Crowe, F., O‘Donovan, P., Patch, C., Pereira, M.B., Rahim, T., Savage, K., Sieghart, A., Taylor Tavares, A.L., Thomas, E.R.A., Tucci, A., Welland, M.J., Williams, E., Zurek, Birte, Demidov, German, Schulze-Hentrich, Julia M., Kessler, Christoph, Traschütz, Andreas, Schöls, Ludger, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, van Os, Nienke, Janssen, Erik, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Mehtarizadeh, Mehdi, Töpf, Ana, Banka, Siddharth, Faivre, Laurence, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Laurie, Steven, Matalonga, Leslie, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Hanauer, Marc, Havrylenko, Svitlana, Izem, Katia, Nelson, Isabelle, Eymard, Bruno, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremlik, Vlastimil, Parkinson, Helen, Robinson, Peter, Hanna, Mike, Houlden, Henry, Vandrovcova, Jana, Muntoni, Francesco, Sarkozy, Anna, Van de Vondel, Liedewei, Banfi, Sandro, Aretz, Stefan, Spier, Isabel, José, Celina São, Ferreira, Marta, Carneiro, Fátima, Johansson, Lennart, van der Vries, Gerben, Roelofs-Prins, Dieuwke, Castello, Raffaele, Morleo, Manuela, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Renieri, Alessandra, Benetti, Elisa, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Polavarapu, Kiran, Beeson, David, Udd, Bjarne, Holinski-Feder, Elke, Steinke-Lange, Verena, Schröck, Evelin, Varshney, Gaurav K.

    Veröffentlicht in HGG advances

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