Αποτελέσματα αναζήτησης - Suckow, Vanessa

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations από Hu, Hao, Suckow, Vanessa, Musante, Luciana, Roggenkamp, Viola, Kraemer, Nadine, Ropers, Hans-Hilger, Hübner, Christoph, Wienker, Thomas F, Kaindl, Angela M

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Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review από 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.

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The Opitz syndrome gene product, MID1, associates with microtubules από Schweiger, Susann, Foerster, John, Lehmann, Tanja, Suckow, Vanessa, Muller, Yves A., Walter, Gerald, Davies, Theresa, Porter, Helen, van Bokhoven, Hans, Lunt, Peter W., Traub, Peter, Ropers, Hans-Hilger

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation από Alber, Michael, Kalscheuer, Vera M., Marco, Elysa, Sherr, Elliott, Lesca, Gaetan, Till, Marianne, Gradek, Gyri, Wiesener, Antje, Korenke, Christoph, Mercier, Sandra, Becker, Felicitas, Yamamoto, Toshiyuki, Scherer, Stephen W., Marshall, Christian R., Walker, Susan, Dutta, Usha R., Dalal, Ashwin B., Suckow, Vanessa, Jamali, Payman, Kahrizi, Kimia, Najmabadi, Hossein, Minassian, Berge A.

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Redefining the MED13L syndrome από Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, Dheedene, Annelies, Bockaert, Nele, Roelens, Filip, Decaestecker, Karin, Silva, João, Soares, Gabriela, Lopes, Fátima, Najmabadi, Hossein, Kahrizi, Kimia, Cox, Gerald F, Angus, Steven P, Staropoli, John F, Fischer, Ute, Suckow, Vanessa, Bartsch, Oliver, Chess, Andrew, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M, Kalscheuer, Vera M

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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita από Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul-Rahman, Omar, Suckow, Vanessa, Fernández-Jaén, Alberto, van Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al-Nasiry, Salwan, van Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.

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