학술논문
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'학술논문'
에서 검색결과 103건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
Mathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E de Bruijn; Ana Belén Iglesias-Romero; Erica G M Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K Holtes; Stephen H Tsang; Zelia Corradi; K Bailey Freund; Stefanida Shliaga; Daan M Panneman; Rebekkah J Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D N Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Mirella T S Barboni; Miriam Bauwens; Tamar Ben-Yosef; David G Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J F Boon; Kari Branham; Alexis Ceecee Britten-Jones; Kinga M Bujakowska; Elizabeth L Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Peter Charbel Issa; Naomi Chadderton; Luísa Coutinho-Santos; Stephen P Daiger; Elfride De Baere; Berta de la Cerda; John N De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L Duncan; G Jane Farrar; Nicolas Feltgen; Lidia Fernández-Caballero; Juliana M Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C Gardner; Christian Gilissen; Kensuke Goto; Roser Gonzàlez-Duarte; Sam Griffiths-Jones; Tobias B Haack; Lonneke Haer-Wigman; Alison J Hardcastle; Takaaki Hayashi; Elise Héon; Alexander Hoischen; Josephine P Holtan; Carel B Hoyng; Manuel Benjamin B Ibanez; Chris F Inglehearn; Takeshi Iwata; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Krisztina Knézy; Caroline C W Klaver; Robert K Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M Lamey; Bart P Leroy; María Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Rina Leibu; Siying Lin; Petra Liskova; Irma Lopez; Victor R de J López-Rodríguez; Omar A Mahroo; Gaël Manes; Martin McKibbin; Terri L McLaren; Isabelle Meunier; Michel Michaelides; José M Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A Pierce; Emily Place; Raj Ramesar; Florence Andrée Rasquin; Gillian I Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Eddera; Ataf H Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M Santos; Margherita Scarpato; Hendrik P N Scholl; Dror Sharon; Sabrina Giovanna Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Katarina Stingl; Akiko Suga; Lori S Sullivan; Viktória Szabó; Jacek P Szaflik; Gita Taurina; Carmel Toomes; Viet H Tran; Miltiadis K Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Joseph van Aerschot; L. Ingeborgh van den Born; Andrew R Webster; Laura Whelan; Bernd Wissinger; Georgia G Yioti; Kazutoshi Yoshitake; Juan C Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I Jacob; Frans P M Cremers; Winston Lee; Jamie M Ellingford; David Stanek; Carlo Rivolta; Susanne Roosing
medRxiv
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P, Blanco-Kelly, F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones, A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S, Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths-Jones, S, Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones, K, Kalatzis, V,Kamakari , S, Karali, M, Kellner, U, Knézy, K, Klaver, C C W, Koenekoop, R K, Kohl, S, Kominami, T, Kühlewein, L, Lamey, T M, Leroy, B P, Martín-Gutiérrez, M P, Martins, N, Mauring, L, Leibu, R, Lin, S, Liskova, P, Lopez, I, López-Rodríguez, V R D J, Mahroo, O A, Manes, G, McKibbin, M, McLaren, T L, Meunier, I, Michaelides, M, Millán, J M, Mizobuchi, K, Mukherjee, R, Nagy, Z Z, Neveling, K, Ołdak, M, Oorsprong, M, Pan, Y, Papachristou, A, Percesepe, A, Pfau, M, Pierce, E A, Place, E, Ramesar, R, Rasquin, F A, Rice, G I, Roberts, L, Rodríguez-Hidalgo, M, Ruiz-Eddera, J, Sabir, A H, Sajiki, A F, Sánchez-Barbero, A I, Sarma, A S, Sangermano, R, Santos, C M, Scarpato, M, Scholl, H P N, Sharon, D, Signorini, S G, Simonelli, F, Sousa, A B, Stefaniotou, M, Stingl, K, Suga, A, Sullivan, L S, Szabó, V, Szaflik, J P, Taurina, G, Toomes, C, Tran, V H, Tsilimbaris, M K, Tsoka, P, Vaclavik, V, Vajter, M, Valeina, S, Valente, E M, Valentine, C, Valero, R, van Aerschot, J, van den Born, L I, Webster, A R, Whelan, L, Wissinger, B, Yioti, G G, Yoshitake, K, Zenteno, J C, Zeuli, R, Zuleger, T, Landau, C, Jacob, A I, Cremers, F P M, Lee, W, Ellingford, J M, Stanek, D, Rivolta, C & Roosing, S 2025 'De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa' medRxiv, medRxiv. https://doi.org/10.1101/2025.01.06.24317169
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P, Blanco-Kelly, F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones, A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S, Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths-Jones, S, Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones, K, Kalatzis, V,
Academic Journal
Rebekkah J. Hitti-Malin; Daan M. Panneman; Zelia Corradi; Erica G. M. Boonen; Galuh Astuti; Claire-Marie Dhaenens; Heidi Stöhr; Bernhard H. F. Weber; Dror Sharon; Eyal Banin; Marianthi Karali; Sandro Banfi; Tamar Ben-Yosef; Damjan Glavač; G. Jane Farrar; Carmen Ayuso; Petra Liskova; Lubica Dudakova; Marie Vajter; Monika Ołdak; Jacek P. Szaflik; Anna Matynia; Michael B. Gorin; Kati Kämpjärvi; Miriam Bauwens; Elfride De Baere; Carel B. Hoyng; Catherina H. Z. Li; Caroline C. W. Klaver; Chris F. Inglehearn; Kaoru Fujinami; Carlo Rivolta; Rando Allikmets; Jana Zernant; Winston Lee; Osvaldo L. Podhajcer; Ana Fakin; Jana Sajovic; Alaa AlTalbishi; Sandra Valeina; Gita Taurina; Andrea L. Vincent; Lisa Roberts; Raj Ramesar; Giovanna Sartor; Elena Luppi; Susan M. Downes; L. Ingeborgh van den Born; Terri L. McLaren; John N. De Roach; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Anna M. Tracewska; Smaragda Kamakari; Juliana Maria Ferraz Sallum; Hanno J. Bolz; Hülya Kayserili; Susanne Roosing; Frans P. M. Cremers
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Academic Journal
Khan, Mubeen ; Cornelis, Stéphanie S. ; De Pozo-Valero, Marta l ; Whelan, Laura ; Runhart, Esmee H. ; Mishra, Ketan ; Bults, Femke ; AlSwaiti, Yahya ; AlTalbishi, Alaa ; De Baere, Elfride ; Banfi, Sandro ; Banin, Eyal ; Bauwens, Miriam ; Ben-Yosef, Tamar ; Boon, Camiel J.F. ; van den Born, L. Ingeborgh ; Defoort, Sabine ; Devos, Aurore ; Dockery, Adrian ; Dudakova, Lubica ; Fakin, Ana ; Farrar, G. Jane ; Sallum, Juliana Maria Ferraz ; Fujinami, Kaoru ; Gilissen, Christian ; Glavač, Damjan ; Gorin, Michael B. ; Greenberg, Jacquie ; Hayashi, Takaaki ; Hettinga, Ymkje M. ; Hoischen, Alexander ; Hoyng, Carel B. ; Hufendiek, Karsten ; Jägle, Herbert ; Kamakari, Smaragda ; Karali, Marianthi ; Kellner, Ulrich ; Klaver, Caroline C.W. ; Kousal, Bohdan ; Lamey, Tina M. ; MacDonald, Ian M. ; Matynia, Anna ; McLaren, Terri L. ; Mena, Marcela D. ; Meunier, Isabelle ; Miller, Rianne ; Newman, Hadas ; Ntozini, Buhle ; Oldak, Monika ; Pieterse, Marc ; Podhajcer, Osvaldo L. ; Puech, Bernard ; Ramesar, Raj ; Rüther, Klaus ; Salameh, Manar ; Salles, Mariana Vallim ; Sharon, Dror ; Simonelli, Francesca ; Spital, Georg ; Steehouwer, Marloes ; Szaflik, Jacek P. ; Thompson, Jennifer A. ; Thuillier, Caroline ; Tracewska, Anna M. ; van Zweeden, Martine ; Vincent, Andrea L. ; Zanlonghi, Xavier ; Liskova, Petra ; Stöhr, Heidi ; De Roach, John N. ; Ayuso, Carmen ; Roberts, Lisa ; Weber, Bernhard H.F. ; Dhaenens, Claire‐Marie ; Cremers, Frans P.M.
In Genetics in Medicine July 2020 22(7):1235-1246
Academic Journal
Tryfon Rotsos; Evangelia Papakonstantinou; Chrysanthos Symeonidis; Augoustinos Krassas; Smaragda Kamakari
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101452- (2022)
Academic Journal
Bharesh K. Chauhan; Anagha Medsinge; Matthew P. Baumgartner; Hannah L. Scanga; Smaragda Kamakari; Eva Gajdosova; Carlos J. Camacho; Ken K. Nischal
Am J Ophthalmol Case Rep
American Journal of Ophthalmology Case Reports, Vol 10, Iss, Pp 172-179 (2018)
American Journal of Ophthalmology Case Reports, Vol 10, Iss, Pp 172-179 (2018)
Academic Journal
Ng, Yi Shiau; Lax, Nichola Z.; Maddison, Paul; Alston, Charlotte L.; Blakely, Emma L.; Hepplewhite, Philippa D.; Riordan, Gillian; Meldau, Surita; Chinnery, Patrick F.; Pierre, Germaine; Chronopoulou, Efstathia; Du, Ailian; Hughes, Imelda; Morris, Andrew A.; Kamakari, Smaragda; Chrousos, Georgia; Rodenburg, Richard J.; Saris, Christiaan G.J.; Feeney, Catherine; Hardy, Steven A.; Sakakibara, Takafumi; Sudo, Akira; Okazaki, Yasushi; Murayama, Kei; Mundy, Helen; Hanna, Michael G.; Ohtake, Akira; Schaefer, Andrew M.; Champion, Mike P.; Turnbull, Doug M.; Taylor, Robert W.; Pitceathly, Robert D.S.; McFarland, Robert; Gorman, Gráinne S.
eBioMedicine. 30:86-93
Academic Journal
Olga, Karapanou; Barbara, Vlassopoulou; Marinella, Tzanela; Dimitrios, Papadopoulos; Panagiotis, Angelidakis; Helen, Michelakakis; George, Ioannidis; Markos, Mihalatos; Smaragda, Kamakari; Stylianos, Tsagarakis
Hormones. 13:146-152
Academic Journal
Smaragda Kamakari; Vassiliki Kokkinou; George Koutsodontis; Polixeni Stamatiou; Christoforos Giatzakis; Anastasios Anastasakis; Ioannis Minas Aslanides; Stavrenia Koukoula; Theoni Panagiotoglou; Ioannis Datseris; Miltiadis K. Tsilimbaris
Journal of Ophthalmology, Vol 2018 (2018)
Academic Journal
Kostakis, George C., MD, DDS, MSc; Papadogeorgakis, Nikos, MD, DDS, PhD; Koumaki, Vasiliki, MD, MPH, PhD; Kamakari, Smaragda, PhD; Koumaki, Dimitra, MD; Alexandridis, Constantinos, DDS, PhD
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology. 109(5):e53-e58
Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1
Academic Journal
Melpomeni, Peppa; Eleni, Boutati; Smaragda, Kamakari; Vasilios, Pikounis; Georgios, Peros; Georgios, Koutsodontis; Vassiliki, Metaxa-Mariatou; Theofanis, Economopoulos; Sotirios A, Raptis; Dimitrios, Hadjidakis
Clinical Endocrinology. 70:75-81
Academic Journal
Kamakari Smaragda; Kokkinou Vassiliki; Koutsodontis George; Stamatiou Polixeni; Giatzakis Christoforos; Anastasakis Anastasios; Aslanides Ioannis Minas; Koukoula Stavrenia; Panagiotoglou Theoni; Datseris Ioannis; Tsilimbaris K. Miltiadis
Journal of Ophthalmology, Vol 2018 (2018)
Academic Journal
Melpomeni, Peppa; Eleni, Boutati; Smaragda, Kamakari; Vasilios, Pikounis; George, Peros; Ioannis G, Panayiotides; Theofanis, Economopoulos; Sotirios A, Raptis; Dimitrios, Hadjidakis
European Journal of Endocrinology. 159:767-771
Academic Journal
Leukemia Research. 29(1):17-31
Academic Journal
Anagnostopoulos, Theodore; Pertesi, Maroulio; Konstantopoulou, Irene; Armaou, Sofia; Kamakari, Smaragda; Nasioulas, George; Athanasiou, Athanassios; Dobrovic, Alex; Young, Mary-Anne; Goldgar, David; Fountzilas, George; Yannoukakos, Drakoulis
Breast Cancer Research and Treatment. July, 2008, Vol. 110 Issue 1, p377, 9 p.
Academic Journal
Konstantopoulou, Irene; Rampias, Theodore; Ladopoulou, Angela; Koutsodontis, George; Armaou, Sophia; Anagnostopoulos, Theodore; Nikolopoulos, George; Kamakari, Smaragda; Nounesis, George; Stylianakis, Antonis; Karanikiotis, Charisios; Razis, Evangelia; Gogas, Helen; Keramopoulos, Antonios; Gaki, Vassiliki; Markopoulos, Christos; Skarlos, Dimosthenis; Pandis, Nikos; Bei, Thalia; Arzimanoglou, Iordanis; Fountzilas, George; Yannoukakos, Drakoulis
Breast Cancer Research and Treatment. Feb, 2008, Vol. 107 Issue 3, p431, 11 p.
Academic Journal
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[검색어] Smaragda Kamakari
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