Emotional sweating across the body: Comparing 16 different skin conductance measurement locations von van Dooren, Marieke, de Vries, J.J.G. (Gert-Jan), Janssen, Joris H

Volltext

SDHA Immunohistochemistry Detects Germline SDHA Gene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas von Korpershoek, Esther, Favier, Judith, Gaal, José, Burnichon, Nelly, van Gessel, Bram, Oudijk, Lindsey, Badoual, Cécile, Gadessaud, Noémie, Venisse, Annabelle, Bayley, Jean-Pierre, van Dooren, Marieke F, de Herder, Wouter W, Tissier, Frédérique, Plouin, Pierre-François, van Nederveen, Francien H, Dinjens, Winand N. M, Gimenez-Roqueplo, Anne-Paule, de Krijger, Ronald R

Volltext

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands von Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G

Volltext

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy von Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.

Volltext

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy von de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., van Genderen, Maria M.

Volltext

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge von Brosens, Erwin, Peters, Nina C J, van Weelden, Kim S, Bendixen, Charlotte, Brouwer, Rutger W W, Sleutels, Frank, Bruggenwirth, Hennie T, van Ijcken, Wilfred F J, Veenma, Danielle C M, Otter, Suzan C M Cochius-Den, Wijnen, Rene M H, Eggink, Alex J, van Dooren, Marieke F, Reutter, Heiko Martin, Rottier, Robbert J, Schnater, J Marco, Tibboel, Dick, de Klein, Annelies

Volltext

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause? von Gaillard, Linda, Goverde, Anne, van den Bosch, Quincy C. C., Jehee, Fernanda S., Brosens, Erwin, Veenma, Danielle, Magielsen, Frank, de Klein, Annelies, Mathijssen, Irene M. J., van Dooren, Marieke F.

Volltext

Mutation update for the SATB2 gene von Zarate, Yuri A., Bosanko, Katherine A., Caffrey, Aisling R., Bernstein, Jonathan A., Martin, Donna M., Williams, Marc S., Berry‐Kravis, Elizabeth M., Mark, Paul R., Manning, Melanie A., Bhambhani, Vikas, Vargas, Marcelo, Seeley, Andrea H., Estrada‐Veras, Juvianee I., Dooren, Marieke F., Schwab, Maria, Vanderver, Adeline, Melis, Daniela, Alsadah, Adnan, Sadler, Laurie, Esch, Hilde, Callewaert, Bert, Oostra, Ann, Maclean, Jane, Dentici, Maria Lisa, Orlando, Valeria, Lipson, Mark, Sparagana, Steven P., Maarup, Timothy J., Alsters, Suzanne IM, Brautbar, Ariel, Kovitch, Eliana, Naidu, Sakkubai, Lees, Melissa, Smith, Douglas M., Turner, Lesley, Raggio, Víctor, Spangenberg, Lucía, Garcia‐Miñaúr, Sixto, Roeder, Elizabeth R., Littlejohn, Rebecca O., Grange, Dorothy, Pfotenhauer, Jean, Jones, Marilyn C., Balasubramanian, Meena, Martinez‐Monseny, Antonio, Blok, Lot Snijders, Gavrilova, Ralitza, Fish, Jennifer L.

Volltext

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder von Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.

Volltext

Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients von Gaillard, Linda, Goverde, Anne, Weerts, Marjolein J.A., de Klein, Annelies, Mathijssen, Irene M.J., Van Dooren, Marieke F.

Volltext

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome von Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G., Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne‐Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L., Mefford, Heather C., Myers, Candace T., Howell, Katherine B., Rodríguez‐Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F., de Wit, Marie Claire Y., Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

Volltext

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases von Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya

Volltext

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping von de Vree, Paula J P, de Wit, Elzo, Yilmaz, Mehmet, van de Heijning, Monique, Klous, Petra, Verstegen, Marjon J A M, Wan, Yi, Teunissen, Hans, Krijger, Peter H L, Geeven, Geert, Eijk, Paul P, Sie, Daoud, Ylstra, Bauke, Hulsman, Lorette O M, van Dooren, Marieke F, van Zutven, Laura J C M, van den Ouweland, Ans, Verbeek, Sjef, van Dijk, Ko Willems, Cornelissen, Marion, Das, Atze T, Berkhout, Ben, Sikkema-Raddatz, Birgit, van den Berg, Eva, van der Vlies, Pieter, Weening, Desiree, den Dunnen, Johan T, Matusiak, Magdalena, Lamkanfi, Mohamed, Ligtenberg, Marjolijn J L, ter Brugge, Petra, Jonkers, Jos, Foekens, John A, Martens, John W, van der Luijt, Rob, van Amstel, Hans Kristian Ploos, van Min, Max, Splinter, Erik, de Laat, Wouter

Volltext

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis von Barrell, William B, Adel Al-Lami, Hadeel, Goos, Jacqueline A C, Swagemakers, Sigrid M A, van Dooren, Marieke, Torban, Elena, van der Spek, Peter J, Mathijssen, Irene M J, Liu, Karen J

Volltext

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects von Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paolo, Guillen Sacoto, Maria J., Santiago-Sim, Teresa, Trimouille, Aurélien, Goizet, Cyril, Nizon, Mathilde, Bruel, Ange-Line, Philippe, Christophe, Grant, Patricia E., Wojcik, Monica H., Stoler, Joan, Genetti, Casie A., van Dooren, Marieke F., Maas, Saskia M., Alders, Marielle, Faivre, Laurence, Sorlin, Arthur, Yoon, Grace, Yalcin, Binnaz, Agrawal, Pankaj B.

Volltext

Genetic counselling legislation and practice in cancer in EU Member States von McCrary, J Matt, Van Valckenborgh, Els, Poirel, Hélène A, de Putter, Robin, van Rooij, Jeroen, Horgan, Denis, Dierks, Marie-Luise, Antonova, Olga, Brunet, Joan, Chirita-Emandi, Adela, Colas, Chrystelle, Dalmas, Miriam, Ehrencrona, Hans, Grima, Claire, Janavičius, Ramūnas, Klink, Barbara, Koczok, Katalin, Krajc, Mateja, Lace, Baiba, Leitsalu, Liis, Mistrik, Martin, Paneque, Milena, Primorac, Dragan, Roetzer, Katharina M, Ronez, Joelle, Slámová, Lucie, Spanou, Elena, Stamatopoulos, Kostas, Stoklosa, Tomasz, Strang-Karlsson, Sonja, Szakszon, Katalin, Szczałuba, Krzysztof, Turner, Jacqueline, van Dooren, Marieke F, van Zelst-Stams, Wendy A G, Vassallo, Loredana-Maria, Wadt, Karin A W, Žigman, Tamara, Ripperger, Tim, Genuardi, Maurizio, Van den Bulcke, Marc, Bergmann, Anke Katharina

Volltext

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol von Den Ottelander, Bianca K, Van Veelen, Marie‐Lise C, De Goederen, Robbin, Van De Beeten, Stephanie DC, Dremmen, Marjolein HG, Loudon, Sjoukje E, Versnel, Sarah L, Van Den Ouweland, Ans MW, Van Dooren, Marieke F, Joosten, Koen FM, Mathijssen, Irene MJ

Volltext

The phenotype of SDHB germline mutation carriers: a nationwide study von Niemeijer, Nicolasine D, Rijken, Johannes A, Eijkelenkamp, Karin, van der Horst-Schrivers, Anouk N A, Kerstens, Michiel N, Tops, Carli M J, van Berkel, Anouk, Timmers, Henri J L M, Kunst, Henricus P M, Leemans, C René, Bisschop, Peter H, Dreijerink, Koen M A, van Dooren, Marieke F, Bayley, Jean-Pierre, Pereira, Alberto M, Jansen, Jeroen C, Hes, Frederik J, Hensen, Erik F, Corssmit, Eleonora P M

Volltext

Mandibular distraction to correct severe non-isolated mandibular hypoplasia: The role of drug-induced sleep endoscopy (DISE) in decision making von van der Plas, Pleun P.J.M., Joosten, Koen F.M., Wolvius, Eppo B., Koudstaal, Maarten J., Mathijssen, Irene M.J., van Dooren, Marieke F., Pullens, Bas

Volltext

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis von Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.

Volltext