학술논문
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'학술논문'
에서 검색결과 391건 | 목록
1~20
Academic Journal
Margarita Zacharogianni; Nikos C. Papandreou; Nikolaos M. Marinakis; Faidon-Nikolaos Tilemis; Joanne Traeger-Synodinos; Sotiria Palioura
American Journal of Ophthalmology. 274:112-121
Academic Journal
Mezzalira, Elisabetta ; D’Agnolo, Mirco ; Antić, Darko ; Basile, Francesca ; Bonifazi, Fedele ; Collado Gimbert, Anna ; Cremonesi, Francesco ; Durmaz, Burak ; Gavriilaki, Eleni ; Glenthøj, Andreas ; Inusa, Baba ; Landi, Annalisa ; Mañú Pereira, Maria del Mar ; Orphanou, Kalia ; Pellegrini, Mariangela ; Rühluel, Dilem ; Stephanou, Coralea ; Chatzimatthaiou, Sotiroula ; Traeger-Synodinos, Joanne ; Kountouris, Petros ; Colombatti, Raffaella
In Blood Global Hematology March 2026 2(1)
Academic Journal
Nikolaos M. Marinakis; Faidon-Nikolaos Tilemis; Danai Veltra; Maria Svingou; Christalena Sofocleous; Kyriaki Kekou; Konstantina Kosma; Afrodite Kampouraki; Chrysi Kontse; Irene Fylaktou; Amalia Sertedaki; Christina Kanaka-Gantenbein; Joanne Traeger-Synodinos; Periklis Makrythanasis
European Journal of Human Genetics. 33:65-71
Academic Journal
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
Saranti, Simoni; Selenti, Nikoletta; Sofocleous, Christalena; Traeger-Synodinos, Joanne; Kattamis, Antonis; Papadakis, Vassilios; Goussetis, Evgenios; Kelaidi, Charikleia; Paisiou, Anna; Polychronopoulou, Sophia; Kossiva, Lydia
Children. August, 2025, Vol. 12 Issue 8
Academic Journal
Expert Review of Molecular Diagnostics. 24:767-775
Academic Journal
Nikolaos M. Marinakis; Maria Svingou; Giorgos‐Konstantinos Papadimas; Constantinos Papadopoulos; Elisabeth Chroni; Roser Pons; Evangelos Pavlou; Ioannis Sarmas; Konstantina Kosma; Paraskevi Apostolou; Christalena Sofocleous; Joanne Traeger‐Synodinos; Kyriaki Kekou
Muscle & Nerve. 70:240-247
Academic Journal
Dana E. Layo-Carris; Emily E. Lubin; Annabel K. Sangree; Kelly J. Clark; Emily L. Durham; Elizabeth M. Gonzalez; Sarina Smith; Rajesh Angireddy; Xiao Min Wang; Erin Weiss; Annick Toutain; Roberto Mendoza-Londono; Lucie Dupuis; Nadirah Damseh; Danita Velasco; Irene Valenzuela; Marta Codina-Solà; Catherine Ziats; Jaclyn Have; Katie Clarkson; Dora Steel; Manju Kurian; Katy Barwick; Diana Carrasco; Aditi I. Dagli; M. J. M. Nowaczyk; Miroslava Hančárová; Šárka Bendová; Darina Prchalova; Zdeněk Sedláček; Alica Baxová; Catherine Bearce Nowak; Jessica Douglas; Wendy K. Chung; Nicola Longo; Konrad Platzer; Chiara Klöckner; Luisa Averdunk; Dagmar Wieczorek; Ilona Krey; Christiane Zweier; Andre Reis; Tugce Balci; Marleen Simon; Hester Y. Kroes; Antje Wiesener; Georgia Vasileiou; Nikolaos M. Marinakis; Danai Veltra; Christalena Sofocleous; Konstantina Kosma; Joanne Traeger Synodinos; Konstantinos A. Voudris; Marie-Laure Vuillaume; Paul Gueguen; Nicolas Derive; Estelle Colin; Clarisse Battault; Billie Au; Martin Delatycki; Mathew Wallis; Lyndon Gallacher; Fatma Majdoub; Noor Smal; Sarah Weckhuysen; An-Sofie Schoonjans; R. Frank Kooy; Marije Meuwissen; Benjamin T. Cocanougher; Kathryn Taylor; Carolyn E. Pizoli; Marie T. McDonald; Philip James; Elizabeth R. Roeder; Rebecca Littlejohn; Nicholas A. Borja; Willa Thorson; Kristine King; Radka Stoeva; Manon Suerink; Esther Nibbeling; Stephanie Baskin; Gwenaël L. E. Guyader; Julie Kaplan; Candace Muss; Deanna Alexis Carere; Elizabeth J. K. Bhoj; Laura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Koniari, Eleni; Hatziagapiou, Kyriaki; Nikola, Alexandra Olti; Georgoulia, Konstantina; Marinakis, Nikolaos; Bakakos, Petros; Athanasopoulou, Athanasia; Koromilias, Athanasios; Rovina, Nikoletta; Efthymiou, Vasiliki; Papakonstantinou, Eleni; Vlachakis, Dimitrios; Mavrikou, Sophia; Koutsoukou, Antonia; Traeger-Synodinos, Joanne; Chrousos, George P.
Biomedical Reports. December, 2024, Vol. 21 Issue 6, p1e, 11 p.
Academic Journal
Genes. April, 2025, Vol. 16 Issue 4
Academic Journal
Kyriaki Kekou; Maria Svingou; Nikos Vogiatzakis; Evangelia Nitsa; Danai Veltra; Nikolaos M. Marinakis; Faidon-Nikolaos Tilemis; Maria Tzetis; Anastasios Mitrakos; Charalambia Tsaroucha; Nicoletta Selenti; Giorgos-Konstantinos Papadimas; Constantinos Papadopoulos; Joanne Traeger-Synodinos; Hanns Lochmuller; Christalena Sofocleous
Expert Review of Molecular Diagnostics. 23:999-1010
Academic Journal
Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria ; Lenz, Dominic ; Schmidt, Axel ; Peters, Philipp ; Kopajtich, Robert ; Zaddach, Malin ; Zimmermann, Hanna ; Hüning, Irina ; Ballhausen, Diana ; Staufner, Christian ; Bianzano, Alyssa ; Hughes, Joanne ; Taylor, Robert W. ; McFarland, Robert ; Devlin, Anita ; Mihaljević, Mihaela ; Barišić, Nina ; Rohlfs, Meino ; Wilfling, Sibylle ; Sondheimer, Neal ; Hewson, Stacy ; Marinakis, Nikolaos M. ; Kosma, Konstantina ; Traeger-Synodinos, Joanne ; Elbracht, Miriam ; Begemann, Matthias ; Trepels-Kottek, Sonja ; Hasan, Dimah ; Scala, Marcello ; Capra, Valeria ; Zara, Federico ; van der Ven, Amelie T. ; Driemeyer, Joenna ; Apitz, Christian ; Krämer, Johannes ; Strong, Alanna ; Hakonarson, Hakon ; Watson, Deborah ; Mayr, Johannes A. ; Prokisch, Holger ; Meitinger, Thomas ; Borggraefe, Ingo ; Spiegler, Juliane ; Baric, Ivo ; Paolini, Marco ; Gerstl, Lucia ; Wagner, Matias
In Genetics in Medicine February 2024 26(2)
Academic Journal
Michaela Nikolaou; Ioannis-Anargyros Vasilakis; Nikolaos M. Marinakis; Faidon-Nikolaos Tilemis; Aglaia Zellos; Evangelia Lykopoulou; Joanne Traeger-Synodinos; Christina Kanaka-Gantenbein
Hormones. 22:515-520
Academic Journal
Sarantou, Sofia; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Siomou, Ekaterini; Ntinopoulos, Argyrios; Serbis, Anastasios
Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 51(1)
Academic Journal
Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; Efthymiou, Stephanie ; Riva, Antonella ; Marafi, Dana ; Zaki, Maha S. ; Suri, Mohnish ; Dominguez, Roberto ; Elbendary, Hasnaa M. ; Alavi, Shahryar ; Abdel-Hamid, Mohamed S. ; Morsy, Heba ; Mau-Them, Frederic Tran ; Nizon, Mathilde ; Tesner, Pavel ; Ryba, Lukáš ; Zafar, Faisal ; Rana, Nuzhat ; Saadi, Nebal W. ; Firoozfar, Zahra ; Gencpinar, Pinar ; Unay, Bulent ; Ustun, Canan ; Bruel, Ange-Line ; Coubes, Christine ; Stefanich, Jennifer ; Sezer, Ozlem ; Agolini, Emanuele ; Novelli, Antonio ; Vasco, Gessica ; Lettori, Donatella ; Milh, Mathieu ; Villard, Laurent ; Zeidler, Shimriet ; Opperman, Henry ; Strehlow, Vincent ; Issa, Mahmoud Y. ; El Khassab, Hebatallah ; Chand, Prem ; Ibrahim, Shahnaz ; Nejad-Rashidi, Ali ; Miryounesi, Mohammad ; Larki, Pegah ; Morrison, Jennifer ; Cristian, Ingrid ; Thiffault, Isabelle ; Bertsch, Nicole L. ; Noh, Grace J. ; Pappas, John ; Moran, Ellen ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Hosseini, Susan ; Abbaszadegan, Mohammad Reza ; Caumes, Roseline ; Vissers, Lisenka E.L.M. ; Neshatdoust, Maedeh ; Montazer, Mostafa Zohour ; El Fahime, Elmostafa ; Canavati, Christin ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Maia, Elias Rayana ; Mansoor, Salehi ; Vivek, Jain ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; Ei-Awady, Heba Ahmed ; Maria de Miranda Henriques-Souza, Adelia ; Cheema, Huma Arshad ; Anjum, Muhammad Nadeem ; Idkaidak, Sara ; Alqarajeh, Firas ; Atawneh, Osama ; Mor-Shaked, Hagar ; Harel, Tamar ; Zifarelli, Giovanni ; Bauer, Peter ; Kok, Fernando ; Kitajima, Joao Paulo ; Monteiro, Fabiola ; Josahkian, Juliana ; Lesca, Gaetan ; Chatron, Nicolas ; Ville, Dorothe ; Murphy, David ; Neul, Jeffrey L. ; Mullegama, Sureni V. ; Begtrup, Amber ; Herman, Isabella ; Mitani, Tadahiro ; Posey, Jennifer E. ; Tay, Chee Geap ; Javed, Iram ; Carr, Lucinda ; Kanani, Farah ; Beecroft, Fiona ; Hane, Lee ; Abdelkreem, Elsayed ; Macek, Milan ; Bispo, Luciana ; Elmaksoud, Marwa Abd ; Hashemi-Gorji, Farzad ; Pehlivan, Davut ; Amor, David J. ; Jamra, Rami Abou ; Chung, Wendy K. ; Ghayoor, Eshan Karimiani ; Campeau, Philippe ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza
In Genetics in Medicine September 2024
Academic Journal
Danai Veltra; Faidon-Nikolaos Tilemis; Nikolaos M. Marinakis; Maria Svingou; Anastasios Mitrakos; Konstantina Kosma; Irene Tsoutsou; Periklis Makrythanasis; Virginia Theodorou; Marina Katsalouli; Pelagia Vorgia; Georgios Niotakis; Georgios Vartzelis; Argirios Dinopoulos; Athanasios Evangeliou; Stella Mouskou; Anastasia Korona; Sotiria Mastroyianni; Antigone Papavasiliou; Maria Tzetis; Roser Pons; Joanne Traeger-Synodinos; Christalena Sofocleous
Expert Review of Molecular Diagnostics. 23:85-103
Academic Journal
Faidon-Nikolaos Tilemis; Nikolaos M. Marinakis; Konstantina Kosma; Florentia Fostira; Joanne Traeger-Synodinos
Molecular Syndromology. 14:225-230
Academic Journal
Danai Veltra; Konstantina Kosma; Antigoni Papavasiliou; Faidon‐Nikolaos Tilemis; Joanne Traeger‐Synodinos; Christalena Sofocleous
American Journal of Medical Genetics Part A. 188:3563-3566
Academic Journal
Kartanou, Chrisoula ; Seferiadi, Maria ; Pomoni, Stella ; Potagas, Constantin ; Sofocleous, Chrystalena ; Traeger-Synodinos, Joanne ; Stefanis, Leonidas ; Panas, Marios ; Koutsis, Georgios ; Karadima, Georgia
In Parkinsonism and Related Disorders February 2023 107
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[검색어] Traeger-Synodinos, Joanne
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