학술논문
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'학술논문'
에서 검색결과 249건 | 목록
1~20
Academic Journal
Levine, Jesse M. ; Calame, Daniel G. ; Sangermano, Riccardo ; Du, Haowei ; Saad, Ahmed ; Lisfeld, Jasmin ; Bierhals, Tatjana ; Denecke, Jonas ; Uctepe, Eyyup ; Celik, Merve Yoldas ; Yesilyurt, Ahmet ; Yildiz Er, Hilal ; Yilmaz Gulec, Elif ; Mushiba, Aziza ; Almontashiri, Naif ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Karaca, Ender ; Alabdi, Lama ; Pehlivan, Davut ; Marafi, Dana ; Zaki, Maha S. ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Bujakowska, Kinga M. ; Lupski, James R.
In The American Journal of Human Genetics 5 February 2026 113(2):362-379
Academic Journal
Kröll-Hermi, Ariane ; Stoetzel, Corinne ; Etard, Christelle ; Halabelian, Levon ; Schaefer, Elise ; Scheidecker, Sophie ; Kahrizi, Kimia ; Payman, Jamali ; Geoffroy, Véronique ; Prasad, Megana ; Obringer, Cathy ; Ruch, Laurie ; Girard, Amandine ; Zeng, Hong ; Li, Fengling ; Plassard, Damien ; Keime, Céline ; Mattioli, Francesca ; Feger, Claire ; Piton, Amélie ; Fujita, Atsushi ; Matsumoto, Naomichi ; Castro, Matheus Augusto Araujo ; Ae, Kim Chong ; Ruaud, Lyse ; Levy, Jonathan ; Dozières, Blandine ; Tabet, Anne-Claude ; Wentzensen, Ingrid M. ; Santiago-Sim, Teresa ; Yusupov, Roman ; Tveten, Kristian ; Smeland, Marie Falkenberg ; Alkhunaizi, Ebba ; Cowing, Gina ; Li, Chumei ; Wortmann, Saskia B. ; Feichtinger, René G. ; Mayr, Johannes A. ; Gonorazky, Herman ; Jing, Gan ; Wang, Xiaodong ; Wang, Jia ; Bierhals, Tatjana ; Grinstein, Lev ; Herget, Theresia ; Ruiz, Anna ; Gabau, Elisabeth ; Kampmeier, Antje ; Kassel, Olivier ; Kuechler, Alma ; Platzer, Konrad ; Jamra, Rami Abou ; Woerner, Audrey ; Idleburg, Michaela ; Kircher, Susanne Gerit ; Laccone, Franco ; Golob, Barbara ; Peterlin, Borut ; Čuturilo, Goran ; Tasic, Velibor ; Kolvenbach, Caroline M. ; Hildebrandt, Friedhelm ; Ramos, Luiza L.P. ; Kok, Fernando ; Buck, Cecilia Barbosa ; van de Laar, Ingrid M.B.H. ; de Man, Stella A. ; Taşdelen, Elifcan ; Sezer, Abdullah ; Büke, Afife ; Yavuz, Zehra ; Çomoğlu, Selim Selçuk ; Costin, Carrie ; Tran Mau Them, Frédéric ; Lacaze, Elodie ; Courtin, Thomas ; Héron, Delphine ; Keren, Boris ; Whalen, Sandra ; Roume, Joelle ; Yang, Yanzhong ; Hoffer, Mariëtte J.V. ; van Haeringen, Arie ; Najmabadi, Hossein ; Arrowsmith, Cheryl H. ; Strähle, Uwe ; Dollfus, Hélène ; Muller, Jean
In The American Journal of Human Genetics 4 December 2025 112(12):2943-2960
Academic Journal
Simone Pelizzari; Marta Campiglio; Yousra El Ghaleb; Tatjana Bierhals; Maja Hempel; Jonas Denecke; Bernhard E. Flucher; Jessika Johannsen
Frontiers in Neurology, Vol 16 (2025)
Academic Journal
Mah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Øystein L.; Smeland, Marie F.; Planes, Marc; Uguen, Kevin; Redon, Sylvia; Bierhals, Tatjana; Scholz, Tasja; Denecke, Jonas; Mensah, Martin A.; Sczakiel, Henrike L.; Tichy, Heidelis; Verheyen, Sarah; Blatterer, Jasmin; Schreiner, Elisabeth; Thies, Jenny; Lam, Christina; Spaeth, Christine G.; Pena, Loren; Ramsey, Keri; Narayanan, Vinodh; Seaver, Laurie H.; Rodriguez, Diana; Afenjar, Alexandra; Burglen, Lydie; Lee, Edward B.; Chou, Tsui-Fen; Weihl, Conrad C.; Shinawi, Marwan S.
The American Journal of Human Genetics. 110:1959-1975
Academic Journal
Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Coban Akdemir, Zeynep; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R.
The American Journal of Human Genetics
Academic Journal
Hassani Nia, Fatemeh; Woike, Daniel; Bento, Isabel; Niebling, Stephan; Tibbe, Debora; Schulz, Kristina; Hirnet, Daniela; Skiba, Matilda; Hönck, Hans-Hinrich; Veith, Katharina; Günther, Christian; Scholz, Tasja; Bierhals, Tatjana; Driemeyer, Joenna; Bend, Renee; Failla, Antonio Virgilio; Lohr, Christian; Alai, Maria Garcia; Kreienkamp, Hans-Jürgen
Molecular Psychiatry. 29(6):1683-1697
Academic Journal
Polovitskaya, Maya M. ; Rana, Tanushka ; Ullrich, Kurt ; Murko, Simona ; Bierhals, Tatjana ; Vogt, Guido ; Stauber, Tobias ; Kubisch, Christian ; Santer, René ; Jentsch, Thomas J.
In Journal of Biological Chemistry July 2024 300(7)
Academic Journal
Worthmann, Anna; Ridder, Julius; Piel, Sharlaine Y. L.; Evangelakos, Ioannis; Musfeldt, Melina; Voß, Hannah; O’Farrell, Marie; Fischer, Alexander W.; Adak, Sangeeta; Sundd, Monica; Siffeti, Hasibullah; Haumann, Friederike; Kloth, Katja; Bierhals, Tatjana; Heine, Markus; Pertzborn, Paul; Pauly, Mira; Scholz, Julia-Josefine; Kundu, Suman; Fuh, Marceline M.; Neu, Axel; Tödter, Klaus; Hempel, Maja; Knippschild, Uwe; Semenkovich, Clay F.; Schlüter, Hartmut; Heeren, Joerg; Scheja, Ludger; Kubisch, Christian; Schlein, Christian
Nature Communications. 15(1)
Academic Journal
Rots, Dmitrijs; Jakub, Taryn; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard; Hopman, Saskia M.J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise; Stevenson, Roger; Everman, David; Patterson, Wesley; Meng, Linyan; Gijavanekar, Charul; de Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio; Almeida, Pedro; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen; Garavelli, Livia; Caraffi, Stefano; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George; Bosch, Daniëlle G.M.; Potgieter, Stephanus; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas; Freitag, Christine; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo; Haack, Tobias; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael; Liebelt, Jan; Dagli, Aditi; Aten, Emmelien; Hurst, Anna C.E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond; Stolerman, Elliot; Brunner, Han; Vissers, Lisenka E.L.M.; Kramer, Jamie; Kleefstra, Tjitske
American Journal of Human Genetics, 110, 6, pp. 963-978
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M,Bierhals , T, Kortüm, F, Lecoquierre, F, Goldenberg, A, Hertz, J M, Andersen, C B, Kibæk, M, Prijoles, E J, Stevenson, R E, Everman, D B, Patterson, W G, Meng, L, Gijavanekar, C, De Dios, K, Lakhani, S, Levy, T, Wagner, M, Wieczorek, D, Benke, P J, Lopez Garcia, M S, Perrier, R, Sousa, S B, Simões, M J, Isidor, B, Deb, W, Schmanski, A A, Abdul-Rahman, O, Philippe, C, Bruel, A-L, Faivre, L, Vitobello, A, Thauvin, C, Smits, J J, Garavelli, L, Caraffi, S G, Peluso, F, Davis-Keppen, L & Douzgou, S 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 6, pp. 963-978. https://doi.org/10.1016/j.ajhg.2023.04.008
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M,
Academic Journal
Ham, Hyoungjun; Jing, Huie; Lamborn, Ian; Kober, Megan; Koval, Alexey; Berchiche, Yamina; Anderson, D. Eric; Druey, Kirk; Mandl, Judith; Isidor, Bertrand; Ferreira, Carlos; Freeman, Alexandra; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew; Schmid, Jana Pachlopnik; Kuhns, Douglas; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki; Matthews, Helen; Simons, Cas; Taft, Ryan; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle; Kong, Heidi; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val; Stratakis, Constantine; Rodriguez-Quevedo, Maria; Bruel, Ange-Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; Mcwalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif; Casanova, Jean-Laurent; Makitie, Outi; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald; Goodnow, Christopher; Sakmar, Thomas; Billadeau, Daniel; Küry, Sébastien; Katanaev, Vladimir; Zhang, Yu; Lenardo, Michael; Su, Helen
Science, 385, 6715, pp. eadd8947
Science 385:eadd8947 (2024)
Science 385:eadd8947 (2024)
Academic Journal
van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell ; Feichtinger, René G. ; Tsiakas, Konstantinos ; Weiss, Deike ; Bierhals, Tatjana ; Scholle, Leila ; Prokisch, Holger ; Kopajtich, Robert ; Santer, René ; Mayr, Johannes A. ; Hempel, Maja ; Wittig, Ilka
In Molecular Genetics and Metabolism November 2023 140(3)
Academic Journal
Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja ; Pfundt, Rolph ; Bierhals, Tatjana ; Casar, Christian ; Müller, Christian ; Niermeijer, Jikke-Mien F. ; Fischer, Jan ; Jahn, Arne ; Hübner, Christoph ; Majore, Silvia ; Agolini, Emanuele ; Novelli, Antonio ; van der Smagt, Jasper ; Ernst, Robert ; van Binsbergen, Ellen ; Mancini, Grazia M.S. ; van Slegtenhorst, Marjon ; Barakat, Tahsin Stefan ; Wakeling, Emma L. ; Kamath, Arveen ; Downie, Lilian ; Pais, Lynn ; White, Susan M. ; de Vries, Bert B.A. ; Kutsche, Kerstin
In Genetics in Medicine October 2023 25(10)
Academic Journal
Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O’Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Jamra, Rami Abou; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; Study, CAUSES; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B
American Journal of Human Genetics, vol 108, iss 8
Academic Journal
Zarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro
Genetics in Medicine. 23:1050-1057
Academic Journal
Seiffert, Simone ; Pendziwiat, Manuela ; Bierhals, Tatjana ; Goel, Himanshu ; Schwarz, Niklas ; van der Ven, Amelie ; Boßelmann, Christian Malte ; Lemke, Johannes ; Syrbe, Steffen ; Willemsen, Marjolein Hanna ; Hedrich, Ulrike Barbara Stefanie ; Helbig, Ingo ; Weber, Yvonne
In eBioMedicine September 2022 83
Academic Journal
Scholz, Tasja; Blohm, Martin Ernst; Kortüm, Fanny; Bierhals, Tatjana; Lessel, Davor; van der Ven, Amelie T.; Lisfeld, Jasmin
Neonatology. August 1, 2021, Vol. 118 Issue 4, p454, 8 p.
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Academic Journal
Li, Dong ; Strong, Alanna ; Shen, Kaitlyn M. ; Cassiman, David ; Van Dyck, Maria ; Linhares, Natalia Duarte ; Valadares, Eugenia Ribeiro ; Wang, Tiancheng ; Pena, Sergio D.J. ; Jaeken, Jaak ; Vergano, Samantha ; Zackai, Elaine ; Hing, Anne ; Chow, Penny ; Ganguly, Arupa ; Scholz, Tasja ; Bierhals, Tatjana ; Philipp, Deindl ; Hakonarson, Hakon ; Bhoj, Elizabeth
In Genetics in Medicine April 2021 23(4):637-644
Academic Journal
Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Banka, Siddharth; Alhaddad, Bader; Asadollahi, Reza; Becker, Jessica; Bierhals, Tatjana; Brown, Kathleen; Bruel, Ange-Line; Brunet, Theresa; Carneiro, Maryline; Cremer, Kirsten; Day, Robert; Denommé-Pichon, Anne-Sophie; Dyment, Dave; Engels, Hartmut; Fisher, Rachel; Goh, Elaine; Hajianpour, M.; Haertel, Lucia Ribeiro Machado; Hauer, Nadine; Hempel, Maja; Herget, Theresia; Johannsen, Jessika; Kraus, Cornelia; Le Guyader, Gwenaël; Lesca, Gaetan; Mau-Them, Frédéric Tran; Mcdermott, John Henry; Mcwalter, Kirsty; Meyer, Pierre; Õunap, Katrin; Popp, Bernt; Reimand, Tiia; Riedhammer, Korbinian; Russo, Martina; Sadleir, Lynette; Saenz, Margarita; Schiff, Manuel; Schuler, Elisabeth; Syrbe, Steffen; van Der Ven, Amelie Theresa; Verloes, Alain; Willems, Marjolaine; Zweier, Christiane; Steindl, Katharina; Zweier, Markus; Rauch, Anita
Genet Med
Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J,Bierhals , T, Brown, KE, Bruel, AL, Brunet, T & Rauch, A 2020, 'New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-020-01011-x
Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J,
Academic Journal
Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; de Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpeleg, Orly; Fattal, Aviva; Geneviève, David; Guillen Sacoto, Maria; Guimier, Anne; Harris, David; Hempel, Maja; Isidor, Bertrand; Jouan, Thibaud; Kuentz, Paul; Koshimizu, Eriko; Lichtenbelt, Klaske; Loik Ramey, Valerie; Maik, Miriam; Miyakate, Sakoto; Murakami, Yoshiko; Pasquier, Laurent; Pedro, Helio; Simone, Laurie; Sondergaard-Schatz, Krista; St-Onge, Judith; Thevenon, Julien; Valenzuela, Irene; Abou Jamra, Rami; van Gassen, Koen; van Haelst, Mieke; van Koningsbruggen, Silvana; Verdura, Edgard; Whelan Habela, Christa; Zacher, Pia; Rivière, Jean-Baptiste; Thauvin-Robinet, Christel; Betschinger, Joerg; Faivre, Laurence
Lehalle, D, Vabres, P, Sorlin, A, Bierhals , T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, 'De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819. https://doi.org/10.1136/jmedgenet-2019-106508
Academic Journal
Ilaria Mannucci; Nghi D. P. Dang; Hannes Huber; Jaclyn B. Murry; Jeff Abramson; Thorsten Althoff; Siddharth Banka; Gareth Baynam; David Bearden; Ana Beleza-Meireles; Paul J. Benke; Siren Berland; Tatjana Bierhals; Frederic Bilan; Laurence A. Bindoff; Geir Julius Braathen; Øyvind L. Busk; Jirat Chenbhanich; Jonas Denecke; Luis F. Escobar; Caroline Estes; Julie Fleischer; Daniel Groepper; Charlotte A. Haaxma; Maja Hempel; Yolanda Holler-Managan; Gunnar Houge; Adam Jackson; Laura Kellogg; Boris Keren; Catherine Kiraly-Borri; Cornelia Kraus; Christian Kubisch; Gwenael Le Guyader; Ulf W. Ljungblad; Leslie Manace Brenman; Julian A. Martinez-Agosto; Matthew Might; David T. Miller; Kelly Q. Minks; Billur Moghaddam; Caroline Nava; Stanley F. Nelson; John M. Parant; Trine Prescott; Farrah Rajabi; Hanitra Randrianaivo; Simone F. Reiter; Janneke Schuurs-Hoeijmakers; Perry B. Shieh; Anne Slavotinek; Sarah Smithson; Alexander P. A. Stegmann; Kinga Tomczak; Kristian Tveten; Jun Wang; Jordan H. Whitlock; Christiane Zweier; Kirsty McWalter; Jane Juusola; Fabiola Quintero-Rivera; Utz Fischer; Nan Cher Yeo; Hans-Jürgen Kreienkamp; Davor Lessel
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
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