학술논문
'학술논문'
에서 검색결과 30건 | 목록
1~10
Academic Journal
Rus, Corina-Marcela; Weissensteiner, Thomas; Pereira, Catarina; Susnea, Iuliana; Danquah, Bright D.; Morales Torres, Galina; Rocha, Maria Eugenia; Cozma, Claudia; Saravanakumar, Deepa; Mannepalli, Sumanth; Kandaswamy, Krishna K.; Di Bucchianico, Sebastiano; Zimmermann, Ralf; Rolfs, Arndt; Bauer, Peter; Beetz, Christian
Academic Journal
Westenberger, Ana; Skrahina, Volha; Usnich, Tatiana; Beetz, Christian; Vollstedt, Eva-Juliane; Laabs, Bjoern-Hergen; Paul, Jefri J.; Curado, Filipa; Skobalj, Snezana; Gaber, Hanaa; Olmedillas, Maria; Bogdanovic, Xenia; Ameziane, Najim; Schell, Nathalie; Aasly, Jan Olav; Afshari, Mitra; Agarwal, Pinky; Aldred, Jason; Alonso-Frech, Fernando; Anderson, Roderick; Araujo, Rui; Arkadir, David; Avenali, Micol; Balal, Mehmet; Benizri, Sandra; Bette, Sagari; Bhatia, Perminder; Bonello, Michael; Braga-Neto, Pedro; Brauneis, Sarah; Cardoso, Francisco Eduardo Costa; Cavallieri, Francesco; Classen, Joseph; Cohen, Lisa; Coletta, Della; Crosiers, David; Cullufi, Paskal; Dashtipour, Khashayar; Demirkiran, Meltem; Aguiar, Patricia de Carvalho; De Rosa, Anna; Djaldetti, Ruth; Dogu, Okan; Ghilardi, Maria Gabriela dos Santos; Eggers, Carsten; Elibol, Bulent; Ellenbogen, Aaron; Ertan, Sibel; Fabiani, Giorgio; Falkenburger, Bjoern H.; Farrow, Simon; Fay-Karmon, Tsviya; Ferencz, Gerald J.; Fonoff, Erich Talamoni; Fragoso, Yara Dadalti; Genc, Gencer; Gorospe, Arantza; Grandas, Francisco; Gruber, Doreen; Gudesblatt, Mark; Gurevich, Tanya; Hagenah, Johann; Hanagasi, Hasmet A.; Hassin-Baer, Sharon; Hauser, Robert A.; Hernandez-Vara, Jorge; Herting, Birgit; Hinson, Vanessa K.; Hogg, Elliot; Hu, Michele T.; Hummelgen, Eduardo; Hussey, Kelly; Infante, Jon; Isaacson, Stuart H.; Jauma, Serge; Koleva-Alazeh, Natalia; Kuhlenbaeumer, Gregor; Kuehn, Andrea; Litvan, Irene; Lopez-Manzanares, Lydia; Luxmore, McKenzie; Manandhar, Sujeena; Marcaud, Veronique; Markopoulou, Katerina; Marras, Connie; McKenzie, Mark; Matarazzo, Michele; Merello, Marcelo; Mollenhauer, Brit; Morgan, John C.; Mullin, Stephen; Musacchio, Thomas; Myers, Bennett; Negrotti, Anna; Nieves, Anette; Nitsan, Zeev; Oskooilar, Nader; Oztop-Cakmak, Ozgur; Pal, Gian; Pavese, Nicola; Percesepe, Antonio; Piccoli, Tommaso; de Souza, Carolina Pinto; Prell, Tino; Pulera, Mark; Raw, Jason; Reetz, Kathrin; Reiner, Johnathan; Rosenberg, David; Ruiz-Lopez, Marta; Martinez, Javier Ruiz; Sammler, Esther; Santos-Lobato, Bruno Lopes; Saunders-Pullman, Rachel; Schlesinger, Ilana; Schofield, Christine M.; Schumacher-Schuh, Artur F.; Scott, Burton; Sesar, ngel; Shafer, Stuart J.; Sheridan, Ray; Silverdale, Monty; Sophia, Rani; Spitz, Mariana; Stathis, Pantelis; Stocchi, Fabrizio; Tagliati, Michele; Tai, Yen F.; Terwecoren, Annelies; Thonke, Sven; Toenges, Lars; Toschi, Giulia; Tumas, Vitor; Urban, Peter Paul; Vacca, Laura; Vandenberghe, Wim; Valente, Enza Maria; Valzania, Franco; Vela-Desojo, Lydia; Weill, Caroline; Weise, David; Wojcieszek, Joanne; Wolz, Martin; Yahalom, Gilad; Yalcin-Cakmakli, Gul; Zittel, Simone; Zlotnik, Yair; Kandaswamy, Krishna K.; Balck, Alexander; Hanssen, Henrike; Borsche, Max; Lange, Lara M.; Csoti, Ilona; Lohmann, Katja; Kasten, Meike; Brueggemann, Norbert; Rolfs, Arndt; Klein, Christine; Bauer, Peter
Periodical
Bertoli-Avella, Aida M.; Kandaswamy, Krishna K.; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patrícia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A.; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N.; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S.; Hüning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S.; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M.; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1551-1568, 18p
Periodical
Bertoli-Avella, Aida M.; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K.; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurașcu, Marius-Ionuț; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M.; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A.; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter
European Journal of Human Genetics: EJHG; January 2021, Vol. 29 Issue: 1 p141-153, 13p
LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Academic Journal
Beetz, Christian; Westenberger, Ana; Al‐Ali, Ruslan; Ameziane, Najim; Alhashmi, Nadia; Boustany, Rose‐Mary; Al Mutairi, Fuad; Alfadhel, Majid; Al‐Hassnan, Zuhair; AlSayed, Moenaldeen; Kandaswamy, Krishna K.; Paknia, Omid; Skrahina, Volha; Rolfs, Arndt; Bauer, Peter
Periodical
Rocha, Maria Eugenia; Silveira, Tainá Regina Damaceno; Sasaki, Erina; Sás, Daíse Moreno; Lourenço, Charles Marques; Kandaswamy, Krishna K.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter; Reardon, Willie; Bertoli-Avella, Aida M.
European Journal of Human Genetics: EJHG; March 2020, Vol. 28 Issue: 3 p367-372, 6p
Academic Journal
Beetz, Christian; Skrahina, Volha; Förster, Toni M.; Gaber, Hanaa; Paul, Jefri J.; Curado, Filipa; Rolfs, Arndt; Bauer, Peter; Schäfer, Stephan; Weckesser, Volkmar; Lieu, Vivi; Radefeldt, Mandy; Pöppel, Claudia; Krake, Susann; Kandaswamy, Krishna K.; Bruesehafer, Katja; Vogel, Florian
Academic Journal
Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M.; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C.; van den Berg, Paul; Jacobs, Edwin H.; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F. J.; de Valk, Walter G.; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N.; Bernstein, Jonathan A.; Monaghan, Kristin G.; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K.; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A.; Salih, Mustafa A.; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O.; Hamad, Muddathir H. A.; Alwadaee, Salem; Awartani, Khalid; Dababo, Anas M.; Almohanna, Futwan; Colak, Dilek; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Gunel, Murat; Ercan-Sencicek, A. Gulhan; Passi, Gouri Rao; Cheema, Huma Arshad; Efthymiou, Stephanie; Houlden, Henry; Bertoli-Avella, Aida M.; Brooks, Alice S.; Retterer, Kyle; Maroofian, Reza; Kaya, Namik; van Ham, Tjakko J.; Barakat, Tahsin Stefan
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442
Academic Journal
Yüksel, Zafer; Vogel, Florian; Alhashem, Amal M.; Alanzi, Talal S.A.; Tabarki, Brahim; Kampe, Kapil; Kandaswamy, Krishna K.; Werber, Martin; Bertoli‐Avella, Aida M.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter
Academic Journal
Bertoli-Avella, Aida M.; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K.; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurascu, Marius-Ionut; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M.; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A.; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter
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[AR] Kandaswamy, Krishna K.
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