Treffer 1 - 20 von 24 für Suche 'Beetz, Andrea M', Suchdauer: 1,66s Treffer weiter einschränken
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    Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, 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, Ghasemi Firouzabadi, Saghar, 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, Tran Mau-Them, Frederic, 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, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

    Veröffentlicht in Brain (London, England : 1878)

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    The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants von Materna, Marie, Delmonte, Ottavia M, Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton E, Charmeteau-De Muylder, Benedicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian A, Darko, Samuel, Sayed, Samir, Le Floc'h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krueger, Renate, Voeller, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, de Septenville, Anne Langlois, Schramm, Chaim A, Shah, Sanjana, Tello-Cajiao, John J, Pala, Francesca, Amini, Kayla, Campos, Jose S, Lima, Noemia Santana, Eriksson, Daniel, Levy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anais, Megret, Jerome, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michael, Vladikine, Natasha, Cardenas, Paula P, Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jeremie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose R, Toribio, Maria L, Kelsen, Judith R, Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurelie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frederic, Douek, Daniel C, Cheynier, Remi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah E, Luche, Herve, Notarangelo, Luigi D, Casanova, Jean-Laurent, Beziat, Vivien

    Veröffentlicht in SCIENCE

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    Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease von Burgmaier, Kathrin, Kunzmann, Kevin, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Eid, Loai, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Hooman, Nakysa, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Ranguelov, Nadejda, Collard, Laure, Lombet, Jacques, Maquet, Julie, Schalk, Gesa, Beck, Bodo B., Benzing, Thomas, Buettner, Reinhard, Grundmann, Franziska, Kurschat, Christine, Benz, Kerstin, Tzschoppe, Anja, Buchholz, Björn, Buescher, Rainer, Häffner, Karsten, Krügel, Jenny, Stock, Johanna, Oh, Jun, Vinke, Tobias, Sander, Anja, Henn, Michael, Derichs, Ute, Jeck, Nikola, Lange-Sperandio, Bärbel, Kusser, Franziska, Benz, Marcus, Schmidt, Silke, Huppertz-Kessler, Christina, Titieni, Andrea, Wurm, Donald, Billing, Heiko, Nabhan, Marwa M., Lara, Luis Enrique, Papachristou, Fotios, Emma, Francesco, Cerkauskiene, Rimante, Azukaitis, Karolis, Wasilewska, Anna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Zaniew, Marcin, Antoniewicz, Jolanta, Lesiak, Justyna, Afonso, Alberto Caldas, Teixeira, Ana, Paripović, Dusan, Peco-Antic, Amira, Papizh, Svetlana, Bayazit, Aysun Karabay, Anarat, Ali, Kavukcu, Salih, Candan, Cengiz, Caliskan, Salim, Canpolat, Nur, Emre, Sevinc, Akinci, Nurver, Conkar, Secil, Poyrazoglu, Hakan M., Dötsch, Jörg, Schaefer, Franz

    Veröffentlicht in The Journal of pediatrics

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    A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease von Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo

    Veröffentlicht in Genetics in medicine

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    Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, 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, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, 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, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

    Veröffentlicht in Brain (London, England : 1878)

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