Not logged in Obsessive-compulsive symptoms and 15q11.2q13.1 duplication syndrome Goebel, Theresa; Maier, Alexander; Schlump, Andrea; Runge, Kimon; Nickel, Kathrin; van Elst, Ludger Tebartz; Schiele, Miriam A.; Domschke, Katharina; Glaeser, Birgitta; Tzschach, Andreas; Komlosi, Katalin; Endres, Dominique Share Save
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients Sachsenweger, Juliane; Jansche, Rebecca; Merk, Tatjana; Heitmeir, Benedikt; Deniz, Miriam; Faust, Ulrike; Roggia, Cristiana; Tzschach, Andreas; Schroeder, Christopher; Riess, Angelika; Pospiech, Helmut; Peltoketo, Hellevi; Pylkaes, Katri; Winqvist, Robert; Wiesmueller, Lisa Share Save
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects Roos, Andreas; van der Ven, Peter F. M.; Alrohaif, Hadil; Koelbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Assent, Marvin; Beck-Woedl, Stefanie; Barresi, Rita; Toepf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schroeder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Roebisch, Luisa; Hentschel, Andreas; Grueneboom, Anika; Fuerst, Dieter O.; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmueller, Hanns Share Save
Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results Runge, Kimon; Reisert, Marco; Feige, Bernd; Nickel, Kathrin; Urbach, Horst; Venhoff, Nils; Tzschach, Andreas; Schiele, Miriam A. A.; Hannibal, Luciana; Pruess, Harald; Domschke, Katharina; van Elst, Ludger Tebartz; Endres, Dominique Share Save
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha Share Save
Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome Matteit, Isabelle; Schlump, Andrea; Reisert, Marco; von Zedtwitz, Katharina; Runge, Kimon; Nickel, Kathrin; Schiele, Miriam A.; Coenen, Volker A.; Domschke, Katharina; Tzschach, Andreas; Endres, Dominique Share Save
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome Goebel, Theresa; Berninger, Lea; Schlump, Andrea; Feige, Bernd; Runge, Kimon; Nickel, Kathrin; Schiele, Miriam A.; van Elst, Ludger Tebartz; Hotz, Alrun; Alter, Svenja; Domschke, Katharina; Tzschach, Andreas; Endres, Dominique Share Save
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B.; Deschauer, Marcus Share Save
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Hermann, Andreas; Cremer, Kirsten; Haberlandt, Edda; Grimmel, Mona; Alhaddad, Bader; Beck-Woedl, Stefanie; Harrer, Merle; Karall, Daniela; Kingelhoefer, Lisa; Tzschach, Andreas; Matthies, Lars C.; Strom, Tim M.; Ringelstein, Erich Bernd; Sturm, Marc; Engels, Hartmut; Wolff, Markus; Lerche, Holger; Haack, Tobias B. Share Save
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Van Dijck, Anke; Vulto-van Silfhout, Anneke T.; Cappuyns, Elisa; van der Werf, Ilse M.; Mancini, Grazia M.; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E.; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B. A.; Kury, Sebastien; Rosenfeld, Jill A.; Meuwissen, Marije E.; Vandeweyer, Geert; Kooy, R. Frank; Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Celine; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabiola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Riess, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H. E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; Gonzalez-Lamuno, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjold, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Vergano, Samantha A. Schrier; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah Share Save
Pedigree analysis equally identifies cases of pancreatic cancer in families with BRCA1 and BRCA2 mutations Schrock, Evelin; Hackmann, Karl; Kuhlee, Franziska; Jahn, Arne; Wagner, Johannes; Kahlert, Anne-Karin; Porrmann, Joseph; Tzschach, Andreas; Aust, Daniela; Baretton, Gustavo; Kast, Karin; Wimberger, Pauline; Laniado, Michael; Kahlert, Christoph; Welsch, Thilo; Weitz, Juergen; Klink, Barbara; Rump, Andreas; Gieldon, Laura Share Save
Sema3a plays a role in the pathogenesis of CHARGE syndrome Ufartes, Roser; Schwenty-Lara, Janina; Freese, Luisa; Neuhofer, Christiane; Moeller, Janika; Wehner, Peter; van Ravenswaaij-Arts, Conny M. A.; Wong, Monica T. Y.; Schanze, Ina; Tzschach, Andreas; Bartsch, Oliver; Borchers, Annette; Pauli, Silke Share Save
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1 Gieldon, Laura; Masjkur, Jimmy Rusdian; Richter, Susan; Daerr, Roland; Lahera, Marcos; Aust, Daniela; Zeugner, Silke; Rump, Andreas; Hackmann, Karl; Tzschach, Andreas; Januszewicz, Andrzej; Prejbisz, Aleksander; Eisenhofer, Graeme; Schrock, Evelin; Robledo, Mercedes; Klink, Barbara Share Save
Genetics of intellectual disability in consanguineous families Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Banavandi, Mohammad Javad Soltani; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gaertner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M.; Oladnabi, Morteza; Wienker, Thomas F.; Ropers, Hans-Hilger; Najmabadi, Hossein Share Save
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy de Carvalho, Luciana Martins; Ngoumou, Gonza; Park, Ji Woo; Ehmke, Nadja; Deigendesch, Nikolaus; Kitabayashi, Naoki; Melki, Isabelle; Souza, Flavio Falcao L.; Tzschach, Andreas; Nogueira-Barbosa, Marcello H.; Ferriani, Virginia; Louzada-Junior, Paulo; Marques, Wilson, Jr.; Lourenco, Charles M.; Horn, Denise; Kallinich, Tilmann; Stenzel, Werner; Hur, Sun; Rice, Gillian I.; Crow, Yanick J. Share Save
Next generation sequencing paves the way for personalized medicine in pheochromocytoma and paraganglioma patients and their families Gieldon, Laura; Richter, Susan; Rump, Andreas; Hackmann, Karl; Tzschach, Andreas; Eisenhofer, Graeme; Peczkowska, Mariola; Prejbisz, Aleksander; Schrock, Evelin; Klink, Barbara Share Save
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability Musante, Luciana; Puettmann, Lucia; Kahrizi, Kimia; Garshasbi, Masoud; Hu, Hao; Stehr, Henning; Lipkowitz, Bettina; Otto, Sabine; Jensen, Lars R.; Tzschach, Andreas; Jamali, Payman; Wienker, Thomas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas W. Share Save
The molecular and phenotypic spectrum of IQSEC2-related epilepsy Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D.; Kossoff, Eric H.; Willems, Marjolaine; Genevieve, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}