학술논문
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'학술논문'
에서 검색결과 66건 | 목록
1~20
Academic Journal
European Journal of Human Genetics. 33(10):1228-1239
Academic Journal
Bayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S.; Benkerroum, Hind; Elbendary, Hasnaa M.; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A.; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A. Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G.; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M.
European Journal of Human Genetics. 33(12):1636-1646
Academic Journal
Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle; Krawitz, P
Academic Journal
Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M. S.; Al-Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Døllner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia
European Journal of Human Genetics. 32(12):1574-1582
Academic Journal
Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie; Milani, Donatella; Saettini, Francesco; Stevens, Cathy; Tooke, Lloyd; van der Zee, Jill; van Genderen, Maria; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia; Cueto-González, Anna; Dominguez-Garrido, Elena; Duijkers, Floor; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany; Smith, David; Stevens, Markus; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; van der Kaay, Daniëlle; van Wijk, Michiel; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul
J Med Genet
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Lacombe, D, Bloch-Zupan, A, Bredrup, C, Cooper, E B,Houge , S D, García-Miñaúr, S, Kayserili, H L, Larizza, L, Lopez Gonzalez, V, Menke, L A, Milani, D, Saettini, F, Stevens, C A, Tooke, L, van der Zee, J A, Genderen, M M V, van-Gils, J, Waite, J, Adrien, J-L, Bartsch, O, Bitoun, P, Bouts, A H M, Cueto-González, A M, Dominguez-Garrido, E, Duijkers, F A, Fergelot, P, Halstead, E, Huisman, S A, Meossi, C, Mullins, J, Nikkel, S M, Oliver, C, Prada, E, Rei, A, Riddle, I, Rodriguez-Fonseca, C, Pena, R R, Russell, J, Saba, A, Santos-Simarro, F, Simpson, B N, Smith, D F, Stevens, M F, Szakszon, K, Taupiac, E, Totaro, N, Palafoll, I V, van der Kaay, D C M, van Wijk, M P, Vyshka, K, Wiley, S & Hennekam, R C 2024, 'Diagnosis and management in Rubinstein-Taybi syndrome : First international consensus statement', Journal of Medical Genetics, vol. 61, no. 6, jmg-2023-109438, pp. 503-519. https://doi.org/10.1136/jmg-2023-109438
Journal of Medical Genetics
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Lacombe, D, Bloch-Zupan, A, Bredrup, C, Cooper, E B,
Journal of Medical Genetics
Academic Journal
Chen, Faye H. ; Hartman, Adam L. ; Letinturier, Mary Catherine V. ; Antoniadou, Victoria ; Baynam, Gareth ; Bloom, Lara ; Crimi, Marco ; Della Rocca, Maria G. ; Didato, Giuseppe ; Houge, Sofia Douzgou ; Jonker, Anneliene ; Kawome, Martina ; Mueller, Friederike ; O'Brien, James ; Puri, Ratna Dua ; Ryan, Nuala ; Thong, Meow-Keong ; Tumienė, Birutė ; Parisi, Melissa A.
In European Journal of Medical Genetics December 2024 72
Academic Journal
Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A. ; Relator, Raissa ; McConkey, Haley ; Demain, Leigh ; Dominguez-Garrido, Elena ; Kaat, Laura Donker ; Houge, Sofia Douzgou ; DuPont, Barbara R. ; Fee, Timothy ; Fletcher, Robin S. ; Gokhale, David ; Haukanes, Bjørn Ivar ; Henneman, Peter ; Hilton, Sarah ; Hilton, Benjamin A. ; Jenkinson, Sarah ; Lee, Jennifer A. ; Louie, Raymond J. ; Motazacker, M. Mahdi ; Rzasa, Jessica ; Stevenson, Roger E. ; Plomp, Astrid ; van der Laan, Liselot ; van der Smagt, Jasper ; Walden, Kellie K. ; Banka, Siddharth ; Mannens, Marcel ; Skinner, Steven A. ; Friez, Michael J. ; Campbell, Christopher ; Tedder, Matthew L. ; Alders, Marielle ; Sadikovic, Bekim
In Genetics in Medicine May 2024 26(5)
Academic Journal
Academic Journal
Tkemaladze, Tinatin; Bratland, Eirik; Bregvadze, Kakha; Shatirishvili, Teona; Tatishvili, Nino; Abzianidze, Elene; Houge, Gunnar; Douzgou, Sofia
Clinical Dysmorphology. Jul 01, 2023 32(3):97-105
Academic Journal
Edward S. Tobias; Elena Avram; Patricia Calapod; Christophe Cordier; Johan T. den Dunnen; Can Ding; Vita Dolzan; Sofia Douzgou Houge; Sally Ann Lynch; James O’Byrne; Philippos Patsalis; Inga Prokopenko; Celia A. Soares; Adam P. Tobias; William G. Newman
Frontiers in Genetics, Vol 12 (2021)
Academic Journal
Turnpenny, Peter; Zschocke, Johannes; Dan, Dorica; Houge, Sofia Douzgou; Faivre, Laurence; Hennekam, Raoul; Hugon, Anne; Kleefstra, Tjitske; Manunta, Andrea; Mosiello, Giovanni; Renieri, Alessandra; Sundqvist, Ammi; Tartaglia, Marco; Tumer, Zeynep; Tumiene, Birute; Wieczorek, Dagmar; Vissers, Lisenka; Vyshka, Klea; Zampino, Giuseppe; Verloes, Alain; Selatnia, Sarra; Berg, Jonathan; Clayton-Smith, Jill; Genuardi, Maurizio; Krahn, Martin; Moog, Ute; Tobias, Edward
Report
Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Klinkhammer, Hannah; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M.; Pantel, Jean Tori; ten Hagen, Merle; Thong, Meow-Keong; Mazlan, Rifhan Azwani Binti; Tae, Sok Kun; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Jacob, Maureen; Peron, Angela; Dias, Cristina; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Weiland, Hannah; Kaptain, Sophia; Chwiałkowska, Karolina; Kwasniewski, Miroslaw; Saad, Ramy; Wiethoff, Sarah; Goel, Himanshu; Tang, Clara; Hau, Anna; Barakat, Tahsin Stefan; Panek, Przemysław; Nabil, Amira; Suh, Julia; Braun, Frederik; Gomy, Israel; Averdunk, Luisa; Ekure, Ekanem; Bergant, Gaber; Peterlin, Borut; Graziano, Claudio; Gaboon, Nagwa; Fiesco-Roa, Moisés; Spinelli, Alessandro Mauro; Wilpert, Nina-Maria; Phowthongkum, Prasit; Güzel, Nergis; Haack, Tobias B.; Bitar, Rana; Tzschach, Andreas; Rodriguez-Palmero, Agusti; Brunet, Theresa; Rudnik-Schöneborn, Sabine; Contreras-Capetillo, Silvina Noemi; Oberlack, Ava; Samango-Sprouse, Carole; Sadeghin, Teresa; Olaya, Margaret; Platzer, Konrad; Borovikov, Artem; Schnabel, Franziska; Heuft, Lara; Herrmann, Vera; Oegema, Renske; Elkhateeb, Nour; Kumar, Sheetal; Komlosi, Katalin; Mohamed, Khoushoua; Kalantari, Silvia; Sirchia, Fabio; Martinez-Monseny, Antonio F.; Höller, Matthias; Toutouna, Louiza; Mohamed, Amal; Lasa-Aranzasti, Amaia; Sayer, John A.; Ehmke, Nadja; Danyel, Magdalena; Sczakiel, Henrike; Schwartzmann, Sarina; Boschann, Felix; Zhao, Max; Adam, Ronja; Einicke, Lara; Horn, Denise; Chew, Kee Seang; Chen, K. A. M. Choy; Karakoyun, Miray; Pode-Shakked, Ben; Eliyahu, Aviva; Rock, Rachel; Carrion, Teresa; Chorin, Odelia; Zarate, Yuri A.; Conti, Marcelo Martinez; Karakaya, Mert; Tung, Moon Ley; Chandra, Bharatendu; Bouman, Arjan; Lumaka, Aime; Wasif, Naveed; Shinawi, Marwan; Blackburn, Patrick R.; Wang, Tianyun; Niehues, Tim; Schmidt, Axel; Roth, Regina Rita; Wieczorek, Dagmar; Hu, Ping; Waikel, Rebekah L.; Ledgister Hanchard, Suzanna E.; Elmakkawy, Gehad; Safwat, Sylvia; Ebstein, Frédéric; Krüger, Elke; Küry, Sébastien; Bézieau, Stéphane; Arlt, Annabelle; Olinger, Eric; Marbach, Felix; Li, Dong; Dupuis, Lucie; Mendoza-Londono, Roberto; Houge, Sofia Douzgou; Weis, Denisa; Chung, Brian Hon-Yin; Mak, Christopher C. Y.; Kayserili, Hülya; Elcioglu, Nursel; Aykut, Ayca; Şimşek-Kiper, Peli Özlem; Bögershausen, Nina; Wollnik, Bernd; Bentzen, Heidi Beate; Kurth, Ingo; Netzer, Christian; Jezela-Stanek, Aleksandra; Devriendt, Koen; Gripp, Karen W.; Mücke, Martin; Verloes, Alain; Schaaf, Christian P.; Nellåker, Christoffer; Solomon, Benjamin D.; Nöthen, Markus M.; Abdalla, Ebtesam; Lyon, Gholson J.; Krawitz, Peter M.; Hsieh, Tzung-Chien
39 Seiten (2024). doi:10.1101/2023.06.06.23290887
Academic Journal
Tinatin, Tkemaladze; Eirik, Bratland; Kakha, Bregvadze; Teona, Shatirishvili; Nino, Tatishvili; Elene, Abzianidze; Gunnar, Houge; Sofia, Douzgou
Clinical Dysmorphology. 32:97-105
Academic Journal
Megan L. Corder; Siren Berland; Jostein A. Førsvoll; Indraneel Banerjee; Phil Murray; Eirik Bratland; David Gokhale; Gunnar Houge; Sofia Douzgou
American Journal of Medical Genetics. Part A
Academic Journal
Szeto, Nicholas; Gerard, Marion; Gillerot, Yves; Berg, Jonathan; Genuardi, Maurizio; Krahn, Martin; Moog, Ute; Tobias, Edward; Turnpenny, Peter; Zschocke, Johannes; Dan, Dorica; Houge, Sofia Douzgou; Le Dref, Marianne; Faivre, Laurence; Hugon, Anne; Jouannic, Jean-Marie; Tjitske, Kleefstra; Koolen, David; Mosiello, Giovanni; Renieri, Alessandra; Tartaglia, Marco; Tumer, Zeynep; Tumiene, Birute; van Eeghen, Agnies; Vissers, Lisenka; Vyshka, Klea; Wieczorek, Dagmar; Zampino, Giuseppe; Zweier, Christiane; Verloes, Alain
Academic Journal
Kristin Andersen, Bakke; Sissel Berge, Helverschou; Torild, Skrivarhaug; Sofia Douzgou, Houge; Asbjørg, Stray-Pedersen
Tidsskrift for Den norske legeforening.
Academic Journal
Hellen Lesmann; Alexander Hustinx; Shahida Moosa; Hannah Klinkhammer; Elaine Marchi; Pilar Caro; Ibrahim M. Abdelrazek; Jean Tori Pantel; Merle ten Hagen; Meow-Keong Thong; Rifhan Azwani Binti Mazlan; Sok Kun Tae; Tom Kamphans; Wolfgang Meiswinkel; Jing-Mei Li; Behnam Javanmardi; Alexej Knaus; Annette Uwineza; Cordula Knopp; Tinatin Tkemaladze; Miriam Elbracht; Larissa Mattern; Rami Abou Jamra; Clara Velmans; Vincent Strehlow; Maureen Jacob; Angela Peron; Cristina Dias; Beatriz Carvalho Nunes; Thainá Vilella; Isabel Furquim Pinheiro; Chong Ae Kim; Maria Isabel Melaragno; Hannah Weiland; Sophia Kaptain; Karolina Chwiałkowska; Miroslaw Kwasniewski; Ramy Saad; Sarah Wiethoff; Himanshu Goel; Clara Tang; Anna Hau; Tahsin Stefan Barakat; Przemysław Panek; Amira Nabil; Julia Suh; Frederik Braun; Israel Gomy; Luisa Averdunk; Ekanem Ekure; Gaber Bergant; Borut Peterlin; Claudio Graziano; Nagwa Gaboon; Moisés Fiesco-Roa; Alessandro Mauro Spinelli; Nina-Maria Wilpert; Prasit Phowthongkum; Nergis Güzel; Tobias B. Haack; Rana Bitar; Andreas Tzschach; Agusti Rodriguez-Palmero; Theresa Brunet; Sabine Rudnik-Schöneborn; Silvina Noemi Contreras-Capetillo; Ava Oberlack; Carole Samango-Sprouse; Teresa Sadeghin; Margaret Olaya; Konrad Platzer; Artem Borovikov; Franziska Schnabel; Lara Heuft; Vera Herrmann; Renske Oegema; Nour Elkhateeb; Sheetal Kumar; Katalin Komlosi; Khoushoua Mohamed; Silvia Kalantari; Fabio Sirchia; Antonio F. Martinez-Monseny; Matthias Höller; Louiza Toutouna; Amal Mohamed; Amaia Lasa-Aranzasti; John A. Sayer; Nadja Ehmke; Magdalena Danyel; Henrike Sczakiel; Sarina Schwartzmann; Felix Boschann; Max Zhao; Ronja Adam; Lara Einicke; Denise Horn; Kee Seang Chew; KAM Choy Chen; Miray Karakoyun; Ben Pode-Shakked; Aviva Eliyahu; Rachel Rock; Teresa Carrion; Odelia Chorin; Yuri A. Zarate; Marcelo Martinez Conti; Mert Karakaya; Moon Ley Tung; Bharatendu Chandra; Arjan Bouman; Aime Lumaka; Naveed Wasif; Marwan Shinawi; Patrick R. Blackburn; Tianyun Wang; Tim Niehues; Axel Schmidt; Regina Rita Roth; Dagmar Wieczorek; Ping Hu; Rebekah L. Waikel; Suzanna E. Ledgister Hanchard; Gehad Elmakkawy; Sylvia Safwat; Frédéric Ebstein; Elke Krüger; Sébastien Küry; Stéphane Bézieau; Annabelle Arlt; Eric Olinger; Felix Marbach; Dong Li; Lucie Dupuis; Roberto Mendoza-Londono; Sofia Douzgou Houge; Denisa Weis; Brian Hon-Yin Chung; Christopher C.Y. Mak; Hülya Kayserili; Nursel Elcioglu; Ayca Aykut; Peli Özlem Şimşek-Kiper; Nina Bögershausen; Bernd Wollnik; Heidi Beate Bentzen; Ingo Kurth; Christian Netzer; Aleksandra Jezela-Stanek; Koen Devriendt; Karen W. Gripp; Martin Mücke; Alain Verloes; Christian P. Schaaf; Christoffer Nellåker; Benjamin D. Solomon; Markus M. Nöthen; Ebtesam Abdalla; Gholson J. Lyon; Peter M. Krawitz; Tzung-Chien Hsieh
medRxiv
Res Sq
40 Seiten (2024). doi:10.21203/rs.3.rs-4438861/v1
Res Sq
40 Seiten (2024). doi:10.21203/rs.3.rs-4438861/v1
Book
Clinical Ophthalmic Genetics and Genomics ISBN: 9780128139448
Academic Journal
Cold Spring Harb Mol Case Stud
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제한된 항목
[검색어] Houge, Sofia Douzgou
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