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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy Koko, Mahmoud; Elseed, Maha A.; Mohammed, Inaam N.; Hamed, Ahlam A.; Abd Allah, Amal S. I.; Yahia, Ashraf; Siddig, Rayan A.; Altmueller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O.; Amin, Mutaz; Ahmed, Elhami A.; Eltazi, Isra Z. M.; Elmugadam, Fatima A.; Abdelgadir, Wasma A.; Eltaraifee, Esraa; Ibrahim, Mohamed O. M.; Ali, Nabila M. H.; Malik, Hiba M.; Babai, Arwa M.; Bakhit, Yousuf H.; Nuernberg, Peter; Ibrahim, Muntaser E.; Salih, Mustafa A.; Schubert, Julian; Elsayed, Liena E. O.; Lerche, Holger 分享 收藏
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors Abdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise; Kaeseberg, Stephan; Winter, Jennifer; Pabst, Ann-Sophie; Eid, Maha M.; Thiele, Holger; Nuernberg, Peter; Budde, Birgit S.; Toliat, Mohammad Reza; Brecht, Ines B.; Schroeder, Christopher; Gschwind, Axel; Ossowski, Stephan; Haeuser, Friederike; Rossmann, Heidi; Abdel-Hamid, Mohamed S.; Hegazy, Ibrahim; Mohamed, Ahmed G.; Schneider, Dominik T.; Bertoli-Avella, Aida; Bauer, Peter; Pearring, Jillian N.; Pfundt, Rolph; Hoischen, Alexander; Gilissen, Christian; Strand, Dennis; Zechner, Ulrich; Tashkandi, Soha A.; Faqeih, Eissa A.; Stemmann, Olaf; Strand, Susanne; Bolz, Hanno J. 分享 收藏
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing Tschernoster, Nikolai; Erger, Florian; Walsh, Patrick R.; McNicholas, Bairbre; Fistrek, Margareta; Habbig, Sandra; Schumacher, Anna-Lena; Folz-Donahue, Kat; Kukat, Christian; Toliat, Mohammad R.; Becker, Christian; Thiele, Holger; Kavanagh, David; Nuernberg, Peter; Beck, Bodo B.; Altmueller, Janine 分享 收藏
Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes Blume, Felix; Kirsten, Holger; Ahnert, Peter; Chakraborty, Trinad; Gross, Arnd; Horn, Katrin; Toliat, Mohammad Reza; Nurnberg, Peter; Westenfelder, Eva-Maria; Goepel, Wolfgang; Scholz, Markus 分享 收藏
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B Becker, Tim; Pich, Andreas; Tamm, Stephanie; Hedtfeld, Silke; Ibrahim, Mohammed; Altmueller, Janine; Dalibor, Nina; Toliat, Mohammad Reza; Janciauskiene, Sabina; Tuemmler, Burkhard; Stanke, Frauke 分享 收藏
Whole blood gene expression profiling distinguishes systemic sclerosis-overlap syndromes from other subsets Moinzadeh, P.; Frommolt, P.; Franitza, M.; Toliat, M. R.; Becker, K.; Nuernberg, P.; Nihtyanova, S. I.; Ahrazoglu, M.; Belz, D.; Hunzelmann, N.; Abraham, D.; Ong, V. H.; Mouthon, L.; Hesselstrand, R.; Denton, C. P.; Krieg, T. 分享 收藏
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype Yigit, Goekhan; Saida, Ken; DeMarzo, Danielle; Miyake, Noriko; Fujita, Atsushi; Yang Tan, Tiong; White, Susan M.; Wadley, Alexandrea; Toliat, Mohammad R.; Motameny, Susanne; Franitza, Marek; Stutterd, Chloe A.; Chong, Pin F.; Kira, Ryutaro; Sengoku, Toru; Ogata, Kazuhiro; Guillen Sacoto, Maria J.; Fresen, Christine; Beck, Bodo B.; Nuernberg, Peter; Dieterich, Christoph; Wollnik, Bernd; Matsumoto, Naomichi; Altmueller, Janine 分享 收藏
Distinct genetic variation and heterogeneity of the Iranian population Mehrjoo, Zohreh; Fattahi, Zohreh; Beheshtian, Maryam; Mohseni, Marzieh; Poustchi, Hossein; Ardalani, Fariba; Jalalvand, Khadijeh; Arzhangi, Sanaz; Mohammadi, Zahra; Khoshbakht, Shahrouz; Najafi, Farid; Nikuei, Pooneh; Haddadi, Mohammad; Zohrehvand, Elham; Oladnabi, Morteza; Mohammadzadeh, Akbar; Jafari, Mandana Hadi; Akhtarkhavari, Tara; Gooshki, Ehsan Shamsi; Haghdoost, Aliakbar; Najafipour, Reza; Niestroj, Lisa-Marie; Helwing, Barbara; Gossmann, Yasmina; Toliat, Mohammad Reza; Malekzadeh, Reza; Nuernberg, Peter; Kahrizi, Kimia; Najmabadi, Hossein; Nothnagel, Michael 分享 收藏
Copy number variants in lipid metabolism genes are associated with gallstones disease in men 脂质代谢基因拷贝数变异与男性胆结石病相关 Perez-Palma, Eduardo; Bustos, Bernabe, I; Lal, Dennis; Buch, Stephan; Azocar, Lorena; Toliat, Mohammad Reza; Lieb, Wolfgang; Franke, Andre; Hinz, Sebastian; Burmeister, Greta; von Shoenfels, Witigo; Schafmayer, Clemens; Ahnert, Peter; Voelzke, Henry; Voelker, Uwe; Homuth, Georg; Lerch, Markus M.; Puschel, Klaus; Gutierrez, Rodrigo A.; Hampe, Jochen; Nuernberg, Peter; Miquel, Juan Francisco; De Ferrari, Giancarlo, V 分享 收藏
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Jurkute, Neringa; Leu, Costin; Pogoda, Hans-Martin; Arno, Gavin; Robson, Anthony G.; Nuernberg, Gudrun; Altmueller, Janine; Thiele, Holger; Motameny, Susanne; Toliat, Mohammad Reza; Powell, Kate; Hoehne, Wolfgang; Michaelides, Michel; Webster, Andrew R.; Moore, Anthony T.; Hammerschmidt, Matthias; Nuernberg, Peter; Yu-Wai-Man, Patrick; Votruba, Marcela 分享 收藏
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration Preising, Markus N.; Goerg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmueller, Janine; Herebian, Diran; Beyer, Mila; Zoellner, Helge J.; Wittsack, Hans-Joerg; Schaper, Joerg; Klee, Dirk; Zechner, Ulrich; Nuernberg, Peter; Schipper, Joerg; Schnitzler, Alfons; Gohlke, Holger; Lorenz, Birgit; Haeussinger, Dieter; Bolz, Hanno J. 分享 收藏
Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia Khan, Hina N.; Perlee, Desiree; Schoenmaker, Lieke; Van Der Meer, Anne-Jan; Franitza, Marek; Toliat, Mohammad Reza; Nuernberg, Peter; Zwinderman, Aeilko H.; van Der Poll, Tom; Scicluna, Brendon P. 分享 收藏
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry ABCG8和TRAF3基因的变异赋予了具有马普切美洲原住民血统的拉丁美洲人胆结石病的风险 Bustos, Bernabe I.; Perez-Palma, Eduardo; Buch, Stephan; Azocar, Lorena; Riveras, Eleodoro; Ugarte, Giorgia D.; Toliat, Mohammad; Nuernberg, Peter; Lieb, Wolfgang; Franke, Andre; Hinz, Sebastian; Burmeister, Greta; von Schoenfels, Witigo; Schafmayer, Clemens; Voelzke, Henry; Voelker, Uwe; Homuth, Georg; Lerch, Markus M.; Luis Santos, Jose; Puschel, Klaus; Bambs, Claudia; Carlos Roa, Juan; Gutierrez, Rodrigo A.; Hampe, Jochen; De Ferrari, Giancarlo V.; Francisco Miquel, Juan 分享 收藏
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes (vol 7, 14829, 2017) Vikhorev, Petr G.; Smoktunowicz, Natalia; Munster, Alex B.; Copeland, Neal; Kostin, Sawa; Montgiraud, Cecile; Messer, Andrew E.; Toliat, Mohammad R.; Li, Amy; dos Remedios, Cristobal G.; Lal, Sean; Blair, Cheavar A.; Campbell, Kenneth S.; Guglin, Maya; Richter, Manfred; Knoll, Ralph; Marston, Steven B. 分享 收藏
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73 C末端无义突变将PTPRQ与常染色体显性听力损失DFNA73联系起来 Eisenberger, Tobias; Di Donato, Nataliya; Decker, Christian; Delle Vedove, Andrea; Neuhaus, Christine; Nuernberg, Gudrun; Toliat, Mohammad; Nuernberg, Peter; Muerbe, Dirk; Bolz, Hanno Joern 分享 收藏
Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission 辅助诊断ICU入院时腹部脓毒症的分子生物标志物 Scicluna, Brendon P.; Wiewel, Maryse A.; van Vught, Lonneke A.; Hoogendijk, Arie J.; Klarenbeek, Augustijn M.; Franitza, Marek; Toliat, Mohammad R.; Nuernberg, Peter; Horn, Janneke; Bonten, Marc J.; Schultz, Marcus J.; Cremer, Olaf L.; van der Poll, Tom 分享 收藏
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes Vikhorev, Petr G.; Smoktunowicz, Natalia; Munster, Alex B.; Copeland, O'Neal; Kostin, Sawa; Montgiraud, Cecile; Messer, Andrew E.; Toliat, Mohammad R.; Li, Amy; dos Remedios, Cristobal G.; Lal, Sean; Blair, Cheavar A.; Campbell, Kenneth S.; Guglin, Maya; Knoll, Ralph; Marston, Steven B. 分享 收藏
Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients van Vught, Lonneke A.; Scicluna, Brendon P.; Wiewel, Maryse A.; Hoogendijk, Arie J.; Klouwenberg, Peter M. C. Klein; Ong, David S. Y.; Cremer, Olaf L.; Horn, Janneke; Franitza, Marek; Toliat, Mohammad R.; Nuernberg, Peter; Bonten, Marc M. J.; Schultz, Marcus J.; van der Poll, Tom 分享 收藏
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies Perez-Palma, Eduardo; Helbig, Ingo; Klein, Karl Martin; Anttila, Verneri; Horn, Heiko; Reinthaler, Eva Maria; Gormley, Padhraig; Ganna, Andrea; Byrnes, Andrea; Pernhorst, Katharina; Toliat, Mohammad R.; Saarentaus, Elmo; Howrigan, Daniel P.; Hoffman, Per; Miquel, Juan Francisco; De Ferrari, Giancarlo V.; Nuernberg, Peter; Lerche, Holger; Zimprich, Fritz; Neubauer, Bern A.; Becker, Albert J.; Rosenow, Felix; Perucca, Emilio; Zara, Federico; Weber, Yvonne G.; Lal, Dennis 分享 收藏
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