Auflistung 4 Medizinische Fakultät nach Titel

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Auflistung 4 Medizinische Fakultät nach Titel

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  • Bi-Directionality of the Microbiota-Gut-Brain Axis in Patients With Functional Dyspepsia: Relevance of Psychotherapy and Probiotics
    Rupp, Sophia Kristina; Stengel, Andreas (2022)
  • BI-RADS similar to 3 lesions at contrast-enhanced breast MRI: is an initial short-interval follow-up necessary?
    Bahrs, Sonja D.; Baur, Astrid; Hattermann, Valerie; Hahn, Markus; Vogel, Ulrich; Claussen, Claus D.; Siegmann-Luz, Katja C. (2014)
  • Bi-Temporal Anodal Transcranial Direct Current Stimulation during Slow-Wave Sleep Boosts Slow-Wave Density but Not Memory Consolidation
    Ruch, Simon; Feher, Kristoffer; Homan, Stephanie; Morishima, Yosuke; Mueller, Sarah Maria; Mueller, Stefanie Verena; Dierks, Thomas; Grieder, Matthias (2021)
  • Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
    van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry (2022)
  • Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
    Carvalhal, Sara; Bader, Ingrid; Rooimans, Martin A.; Oostra, Anneke B.; Balk, Jesper A.; Feichtinger, Rene G.; Beichler, Christine; Speicher, Michael R.; van Hagen, Johanna M.; Waisfisz, Quinten; van Haelst, Mieke; Bruijn, Martijn; Tavares, Alexandra; Mayr, Johannes A.; Wolthuis, Rob M. F.; Oliveira, Raquel A.; de Lange, Job (2022)
  • Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias
    Schneider-Yin, Xiaoye; van Serooskerken, Anne-Moon van Tuyll; Siegesmund, Marko; Went, Philip; Barman-Aksoezen, Jasmin; Bladergroen, Reno S.; Komminoth, Paul; Cloots, Roy H. E.; Winnepenninckx, Veronique J.; Hausen, Axel Zur; Weber, Markus; Driessen, Ann; Poblete-Gutierrez, Pamela; Bauer, Peter; Schroeder, Christopher; van Geel, Michel; Minder, Elisabeth I.; Frank, Jorge (2015)
  • Biallelic loss of EMC10 leads to mild to severe intellectual disability
    Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Boshra; Shao, Diane D.; Markus-Bustani, Keren; Sofrin-Drucker, Efrat; Orenstein, Naama; Salayev, Kamran; Arrigoni, Filippo; Houlden, Henry; Maroofian, Reza (2022)
  • Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome
    Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik-Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren-Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voermans, Nicol C.; Elbendary, Hasnaa M.; Snyder, Molly; Cai, Chunyu; Lehky, Tanya J.; Stanley, Valentina; Iannaccone, Susan T.; Foley, A. Reghan; Lochmueller, Hanns; Gleeson, Joseph; Houlden, Henry; Haack, Tobias B.; Horvath, Rita; Bonnemann, Carsten G. (2020)
  • Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
    Rabionet, Raquel; Remesal, Agustin; Mensa-Vilaro, Anna; Murias, Sara; Alcobendas, Rosa; Gonzalez-Roca, Eva; Ruiz-Ortiz, Estibaliz; Anton, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yague, Jordi; Merino, Rosa; Estivill, Xavier; Arosteguis, Juan, I (2019)
  • Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
    Magrinelli, Francesca; Cali, Elisa; Braga, Vinicius Lopes; Yis, Uluc; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flavio Moura; Povoas Barsottini, Orlando Graziani; Taylor, Robert W.; Ostergaard, Elsebet; Tamim, Abdullah; Schaeferhoff, Karin; Ferraz Sallum, Juliana Maria; Zaki, Maha S.; Kok, Fernando; Bhatia, Kailash P.; Wissinger, Bernd; Sergeant, Kate; Haack, Tobias B.; Horvath, Rita; Hiz, Semra; Alkuraya, Fowzan S.; Houlden, Henry; Pedroso, Jose Luiz; Maroofian, Reza (2022)
  • Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
    Rebelo, Adriana P.; Eidhof, Ilse; Cintra, Vivian P.; Guillot-Noel, Lena; Pereira, Claudia, V; Timmann, Dagmar; Traschutz, Andreas; Schols, Ludger; Coarelli, Giulia; Durr, Alexandra; Anheim, Mathieu; Tranchant, Christine; van de Warrenburg, Bart; Guissart, Claire; Koenig, Michel; Howell, Jack; Moraes, Carlos T.; Schenck, Annette; Stevanin, Giovanni; Zuechner, Stephan; Synofzik, Matthis (2021)
  • 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. (2023)
  • Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
    Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale (2017)
  • Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
    Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B.; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A.; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Groppa, Stanislav; Karashova, Blagovesta Marinova; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Perez-Duenas, Belen; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; van den Maagdenberg, Arn M. J. M.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; Garcia-Silva, Mayte; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Sanchez, Benigno Monteagudo; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Rothman, James; Kullmann, Dimitri; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Minetti, Carlo; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa; Pipis, Menelaos; Bettencourt, Conceicao; Rinaldi, Simon; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S.; Edvardson, Simon; Nolano, Maria; Devaux, Jerome; Houlden, Henry (2019)
  • Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
    Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schuele, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan (2020)
  • Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
    Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza (2023)
  • Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
    Lekszas, Caroline; Foresti, Ombretta; Raote, Ishier; Lietdke, Daniel; Koenig, Eva-Maria; Nanda, Indrajit; Vona, Barbara; De Coster, Peter; Cauwels, Rita; Malhotra, Vivek; Haaf, Thomas (2020)
  • Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
    Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H. Z.; Heaton, Robert A.; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B.; Stingl, Katarina; Hoyng, Carel B.; Mahroo, Omar A.; Hargreaves, Iain; Raymond, F. Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R.; Arno, Gavin (2022)
  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
    Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry (2021)
  • Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
    Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernandez, Hector Adrian Diaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K. (2021)