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Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study Inhestern, Laura; Otto, Ramona; Brandt, Maja; Zybarth, David; Oheim, Ralf; Schueler, Helke; Mir, Thomas S.; Tsiakas, Konstantinos; Dibaj, Payam; Zschuentzsch, Jana; Okun, Pamela M.; Hegenbart, Ute; Sommerburg, Olaf; Schramm, Christoph; Weiler-Normann, Christina; Haerter, Martin; Bergelt, Corinna Share Save
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Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease van der Ven, Amelie T.; Cabrera-Orefice, Alfredo; Wente, Isabell; Feichtinger, Rene G.; Tsiakas, Konstantinos; Weiss, Deike; Bierhals, Tatjana; Scholle, Leila; Prokisch, Holger; Kopajtich, Robert; Santer, Rene; Mayr, Johannes A.; Hempel, Maja; Wittig, Ilka Share Save
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 Park, Julien H.; Nordstroem, Ulrika; Tsiakas, Konstantinos; Keskin, Isil; Elpers, Christiane; Mannil, Manoj; Heller, Raoul; Nolan, Melinda; Alburaiky, Salam; Zetterstroem, Per; Hempel, Maja; Schara-Schmidt, Ulrike; Biskup, Saskia; Steinacker, Petra; Otto, Markus; Weishaupt, Jochen; Hahn, Andreas; Santer, Rene; Marquardt, Thorsten; Marklund, Stefan L.; Andersen, Peter M. Share Save
Effects of Infantile Hypophosphatasia on Human Dental Tissue Woelfel, Eva Maria; von Kroge, Simon; Matthies, Levi; Koehne, Till; Petz, Karin; Beikler, Thomas; Schmid-Herrmann, Carmen Ulrike; Kahl-Nieke, Baerbel; Tsiakas, Konstantinos; Santer, Rene; Muschol, Nicole Maria; Herrmann, Jochen; Busse, Bjoern; Amling, Michael; Rolvien, Tim; Jandl, Nico Maximilian; Barvencik, Florian Share Save
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A.; Farris, Joseph; Ostergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas, V; Magistrati, Martina; Spector, Elaine B.; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G.; Feichtinger, Rene G.; Achleitner, Melanie T.; Merritt, J. Lawrence; Perez, Belen; Ugarte, Magdalena; Grunewald, Stephanie; Riela, Anthony R.; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, Rene; Lund, Allan M.; Mayr, Johannes A.; Rodriguez-Pombo, Pilar; Van Hove, Johan L. K. Share Save
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R. Share Save
Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness Mahler, Elisa A.; Johannsen, Jessika; Tsiakas, Konstantinos; Kloth, Katja; Luettgen, Sabine; Muehlhausen, Chris; Alhaddad, Bader; Haack, Tobias B.; Strom, Tim M.; Kortuem, Fanny; Meitinger, Thomas; Muntau, Ania C.; Santer, Rene; Kubisch, Christian; Lessel, Davor; Denecke, Jonas; Hempel, Maja Share Save
Recessive mutations in >VPS13D cause childhood onset movement disorders Gauthier, Julie; Meijer, Inge A.; Lessel, Davor; Mencacci, Niccolo E.; Krainc, Dimitri; Hempel, Maja; Tsiakas, Konstantinos; Prokisch, Holger; Rossignol, Elsa; Helm, Margaret H.; Rodan, Lance H.; Karamchandani, Jason; Carecchio, Miryam; Lubbe, Steven J.; Telegrafi, Aida; Henderson, Lindsay B.; Lorenzo, Kerry; Wallace, Stephanie E.; Glass, Ian A.; Hamdan, Fadi F.; Michaud, Jacques L.; Rouleau, Guy A.; Campeau, Philippe M. Share Save
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy Park, Julien H.; Hogrebe, Max; Fobker, Manfred; Brackmann, Renate; Fiedler, Barbara; Reunert, Janine; Rust, Stephan; Tsiakas, Konstantinos; Santer, Rene; Gruneberg, Marianne; Marquardt, Thorsten Share Save
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. Share Save
LYRM7-associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study Hempel, Maja; Kremer, Laura S.; Tsiakas, Konstantinos; Alhaddad, Bader; Haack, Tobias B.; Loebel, Ulrike; Feichtinger, Rene G.; Sperl, Wolfgang; Prokisch, Holger; Mayr, Johannes A.; Santer, Rene Share Save
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation Park, Julien H.; Hogrebe, Max; Grueneberg, Marianne; DuChesne, Ingrid; von der Heiden, Ava L.; Reunert, Janine; Schlingmann, Karl P.; Boycott, Kym M.; Beaulieu, Chandree L.; Mhanni, Aziz A.; Innes, A. Micheil; Hoertnagel, Konstanze; Biskup, Saskia; Gleixner, Eva M.; Kurlemann, Gerhard; Fiedler, Barbara; Omran, Heymut; Rutsch, Frank; Wada, Yoshinao; Tsiakas, Konstantinos; Santer, Rene; Nebert, Daniel W.; Rust, Stephan; Marquardt, Thorsten Share Save
Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation Fortugno, Paola; Josselin, Emmanuelle; Tsiakas, Konstantinos; Agolini, Emanuele; Cestra, Gianluca; Teson, Massimo; Santer, Rene; Castiglia, Daniele; Novelli, Giuseppe; Dallapiccola, Bruno; Kurth, Ingo; Lopez, Marc; Zambruno, Giovanna; Brancati, Francesco Share Save
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CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals Barvencik, Florian; Kurth, Ingo; Koehne, Till; Stauber, Tobias; Zustin, Jozef; Tsiakas, Konstantinos; Ludwig, Carmen F.; Beil, F. Timo; Pestka, Jan M.; Hahn, Michael; Santer, Rene; Supanchart, Chayarop; Kornak, Uwe; Del Fattore, Andrea; Jentsch, Thomas J.; Teti, Anna; Schulz, Ansgar; Schinke, Thorsten; Amling, Michael Share Save
Cantu Syndrome Is Caused by Mutations in ABCC9 van Bon, Bregje W. M.; Gilissen, Christian; Grange, Dorothy K.; Hennekam, Raoul C. M.; Kayserili, Hulya; Engels, Hartmut; Reutter, Heiko; Ostergaard, John R.; Morava, Eva; Tsiakas, Konstantinos; Isidor, Bertrand; Le Merrer, Martine; Eser, Metin; Wieskamp, Nienke; de Vries, Petra; Steehouwer, Marloes; Veltman, Joris A.; Robertson, Stephen P.; Brunner, Han G.; de Vries, Bert B. A.; Hoischen, Alexander Share Save
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