학술논문
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'학술논문'
에서 검색결과 122건 | 목록
1~20
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian, R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E , Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D, Marafi, D, Duan, R, Boehnke, A, Clark, G D, Rosenfeld, J A, Mohila, C A, Steel, D, Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi-Fakhari, D, Çavdartepe, B E , Chang, I J, Beckman, E , Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D, Mandel, H, Kimball, A, Kline, A D, Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman , K E , Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D, Gold, J I, Schuler, E , Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D, Mencacci, N E , Bakhtiari, S, Kruer, M, Argilli, E , Sherr, E , Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Academic Journal
Iwai, Maki; Stuurman, Kyra E.; Meagher, Kirsten; Leveille, Lise A.; Saisu, Takashi; Mori, Satomi; Kumaki, Tatsuro; Enomoto, Yumi; Aida, Noriko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Patel, Millan S.; Kurosawa, Kenji; Nishimura, Gen
European Journal of Human Genetics. 34(1):147-151
Academic Journal
Jean Jacobs; Hristiana Lyubenova; Sven Potelle; Johannes Kopp; Isabelle Gerin; Wing Lee Chan; Miguel Rodriguez de los Santos; Wiebke Hülsemann; Martin A. Mensah; Valérie Cormier-Daire; Marieke Joosten; Hennie T. Bruggenwirth; Kyra E. Stuurman; Valancy Miranda; Philippe M. Campeau; Lars Wittler; Julie Graff; Stefan Mundlos; Daniel M. Ibrahim; Emile Van Schaftingen; Björn Fischer-Zirnsak; Uwe Kornak; Nadja Ehmke; Guido T. Bommer
Nature
Academic Journal
Smits, Daphne J.; Debuy, Christophe; Brooks, Alice S.; Schot, Rachel; Ferraro, Federico; Rots, Dmitrijs; Bouman, Arjan; Verhoeven, Virginie J. M.; Donker Kaat, Laura; Kant, Sarina G.; van Bever, Yolande; Demirdas, Serwet; Zeidler, Shimriet; van Dooren, Marieke F.; Donze, Stephany H.; Hoefsloot, Lies H.; van Slegtenhorst, Marjon A.; Wilke, Martina; Sleutels, Frank; Drost, Mark; Brüggenwirth, Hennie T.; van Minkelen, Rick; Goverde, Anne; Hol, Janna A.; van de Laar, Ingrid M. B. H.; van Ierland, Yvette; Kievit, Anneke; van der Schoot, Vyne; Stuurman, Kyra E.; Mancini, Grazia M. S.; Wessels, Marja W.; van Ham, Tjakko J.; Kleefstra, Tjitske; Barakat, Tahsin Stefan
European Journal of Human Genetics. 33(10):1281-1289
Academic Journal
Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C.W.; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B.R.; Hollink, Iris R.; Meerstein-Kessel, Lisette; Hoefsloot, Lies H.; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J.A.; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W.; Verheijen-Mancini, Grazia M.; van de Laar, Ingrid M.B.H.; Kievit, Anneke J.A.; Verhagen, Judith M.A.; Stuurman, Kyra E.; Donker Kaat, Laura; van Dooren, Marieke F.; Wessels, Marja W.; Oldenburg, Rogier A.; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J.M.; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E.; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J.; Saris, Jasper J.; Nellist, Mark; van Ham, Tjakko J.
Human Genetics and Genomics Advances. 7(1)
Academic Journal
Ghayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle; Rooney, Kathleen; Levy, Michael; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Maas, Saskia M.; Vissers, Lisenka; de Vries, Bert; Pfundt, Rolph; Elting, Mariet; van Hagen, Johanna; Verbeek, Nienke E; Jongmans, Marjolijn C.J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Geneviève, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles; Õunap, Katrin; Hoffer, Mariette; Nezarati, Marjan; van den Boogaard, Marie-José; Tedder, Matthew; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; Mccann, Emma; Mroczkowski, Henry; Jansen, Sandra; Donker Kaat, Laura; Duijkers, Floor; Stuurman, Kyra E.; Mannens, Marcel M.A.M; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M
Hum Genet
Human Genetics, 143, 6, pp. 761-773
Human genetics
Human Genetics, 143, 6, pp. 761-773
Human genetics
Academic Journal
Diderich, Karin E.M. ; Klapwijk, Jasmijn E.; van der Schoot, Vyne; van den Born, Myrthe; Wilke, Martina; Joosten, Marieke; Stuurman, Kyra E.; Hoefsloot, Lies H.; Van Opstal, Diane; Brüggenwirth, Hennie T.; Srebniak, Malgorzata I.
In European Journal of Medical Genetics October 2023 66(10)
Academic Journal
Iglesias, Adriana I.; Van Opstal, Diane; Thurik, Florentine F.; Drost, Mark; Weerts, Marjolein J. A.; Joosten, Marieke; Diderich, Karin E. M.; van der Schoot, Vyne; van den Born, Myrthe; Galjaard, Robert-Jan H.; van Veen, Stefanie; Goedegebuur-Zwalua, Eveline; de Weerd, Sabina; Dijkman, Anneke; Papatsonis, Dimitri; Cornette, Jerome M. J.; Galjaard, Sander; Knapen, Maarten F. C. M.; Prinsen, Krista; Go, Attie T. J. I.; Stuurman, Kyra E.; Srebniak, Malgorzata I.
Academic Journal
Diderich, Karin E.M.; Klapwijk, Jasmijn E.; van der Schoot, Vyne; van den Born, Myrthe; Wilke, Martina; Joosten, Marieke; Stuurman, Kyra E.; Hoefsloot, Lies H.; Van Opstal, Diane; Brüggenwirth, Hennie T.; Srebniak, Malgorzata I.
European Journal of Medical Genetics. 67
Academic Journal
Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Sam van de Ven; Raphael Bernier; Ernie M. H. F. Bongers; Arjan Bouman; Laura de Graaff – Herder; Evan E. Eichler; Erica H. Gerkes; Christa M. De Geus; Johanna M. van Hagen; Philip R. Jansen; Jennifer Kerkhof; Anneke J. A. Kievit; Tjitske Kleefstra; Saskia M. Maas; Stella A. de Man; Haley McConkey; Wesley G. Patterson; Amy T. Dobson; Eloise J. Prijoles; Bekim Sadikovic; Raissa Relator; Roger E. Stevenson; Connie T. R. M. Stumpel; Malou Heijligers; Kyra E. Stuurman; Katharina Löhner; Shimriet Zeidler; Jennifer A. Lee; Amanda Lindy; Fanggeng Zou; Matthew L. Tedder; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Academic Journal
Melis, Daniela; Carvalho, Daniel; Barbaro-Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renata; Ramsey, Keri; Rossi, Alessandro; Sandoval, Renata Lazari; Stumpel, Constance; Stuurman, Kyra E.; Cordeddu, Viviana; Turnpenny, Peter; Strisciuglio, Pietro; Tartaglia, Marco; Unger, Sheela; Waters, Todd; Turnbull, Clare; Hennekam, Raoul C.
Clinical genetics. 97(6):890-901
Academic Journal
Zikanova, Marie; Skopova, Vaclava; Stuurman, Kyra E.; Baresova, Veronika; Souckova, Olga; Hnizda, Ales; Krijt, Matyas; Bleyer, Anthony J.; Zeman, Jiri; Kmoch, Stanislav
Academic Journal
Konrad, Enrico D.H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C.J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane
Genet Med
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad,E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E , Bouman, A, Stuurman , K E , Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E , Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad,
Academic Journal
Geest, Ferdy S. van; Meima, Marcel E.; Stuurman, Kyra E.; Wolf, Nicole I.; Knaap, Marjo S. van der; Lorea, Claudia F.; Poswar, Fabiano O.; Vairo, Filippo; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bakhtiani, Priyanka; Munnik, Sonja A. de; Peeters, Robin P; Visser, W. Edward; Groeneweg, Stefan
Journal of Clinical Endocrinology & Metabolism. February, 2021, Vol. 106 Issue 2, p539, 15 p.
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Kyra E. Stuurman; Marjolein H. van der Mespel-Brouwer; Melanie A. J. Engels; Mariet W. Elting; Shama L. Bhola; Hanne Meijers-Heijboer
Frontiers in Medicine, Vol 8 (2021)
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Diderich, Karin E. M.; Bruggenwirth, Hennie T.; Joosten, Marieke; Thurik, Florentine; Mijalkovic, Jona; Polak, Marike; Kromosoeto, Joan; Somers-Bolman, Galhana M.; van den Born, Myrthe; Drost, Mark; Galjaard, Robert Jan H.; Galjaard, Sander; Hoefsloot, Lies H.; Knapen, Maarten F. C. M.; van Minkelen, Rick; van der Schoot, Vyne; van Slegtenhorst, Marjon A.; Sleutels, Frank; Stuurman, Kyra E.; Weerts, Marjolein J. A.; Go, Attie T. J. I.; Wilke, Martina; Srebniak, Malgorzata I.
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Clinical Case Reports, Vol 6, Iss 7, Pp 1313-1316 (2018)
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