학술논문
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'학술논문'
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1~20
Academic Journal
Melanie P. Napier; Erin Ryan; Adi Reich; Joshua A. Suhl; Diane Masser-Frye; Marilyn Jones; Celese Beaudreau; Nathaniel Robin; Dana Goodloe; Leandra Folk; Michelle M. Morrow; Deanna Alexis Carere
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Genetics in Medicine Open, Vol 3, Iss , Pp 102126- (2025)
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Steven Blackburn; Rachele Hine; Samantha Fairbanks; Phillip Parkes; Darren Murinas; Andrew Meakin; Robert Taylor; Linda Parton; Marilyn Jones; Jessica Tunmore; Jennifer Lench; Nicola Evans; Katharine Lewney; Lucy O’Mara; Anthony A. Fryer
Research Involvement and Engagement, Vol 9, Iss 1, Pp 1-17 (2023)
Academic Journal
Courtney Verscaj; Frances Velez-Bartolomei; Ethan Bodle; Katie Chan; Michael Lyons; Willa Thorson; Wen-Hann Tan; John Graham; Angela Peron; Fabiola Quintero-Rivera; Elaine Zackai; Mary Ann Thomas; Cathy Stevens; Margaret Adam; Lynne Bird; Marilyn Jones; Dena Matalon
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100650- (2023)
Academic Journal
Ryan Taft; Erin Thorpe; John Belmont; Taylor Williams; Chad Shaw; Jason Button; Julia Ortega; Keisha Robinson; Marilyn Jones; Diane Masser-Frye; Donald Basel; Chester Brown; Keith Vaux; Aime Lumaka; Fabio Sirchia; Milagros Dueñas Roque; Mario Cornejo-Olivas; Jeny Bazalar-Montoya; Nora Urraca; Alejandra Salguero; Samuel Wiafe; Romina Foster-Bonds; Erin Royer; Michelle Gallas; Pilar Magoulas; Adeline Vanderver; Marwan Shinawi; Alan Taylor; Kristen Fishler; Duncan Henry; Daria Salyakina; Kate Gibson; Melissa Lah; Alka Malhotra; James Avecilla; Andrew Warren; Denise Perry; Max Arseneault
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100464- (2023)
Academic Journal
Brittany Thomas; Akanchha Kesari; Aime Lumaka; Mario Cornejo-Olivas; David Ward; Parul Jayakar; Donald Basel; Marilyn Jones; Erin Thorpe; Denise Perry; Ryan Taft
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100619- (2023)
Academic Journal
Jia-Hui Sun; Jiang Chen; Fernando Eduardo Ayala Valenzuela; Carolyn Brown; Diane Masser-Frye; Marilyn Jones; Leslie Patron Romero; Berardo Rinaldi; Wenhui Laura Li; Qing-Qing Li; Dan Wu; Benedicte Gerard; Erin Thorpe; Allan Bayat; Yun Stone Shi
PLoS Genetics, Vol 17, Iss 6, p e1009608 (2021)
Academic Journal
Berardo Rinaldi; Allan Bayat; Linda G Zachariassen; Jia-Hui Sun; Yu-Han Ge; Dan Zhao; Kristine Bonde; Laura H Madsen; Ilham Abdimunim Ali Awad; Duygu Bagiran; Amal Sbeih; Syeda Maidah Shah; Shaymaa El-Sayed; Signe M Lyngby; Miriam G Pedersen; Charlotte Stenum-Berg; Louise Claudia Walker; Ilona Krey; Andrée Delahaye-Duriez; Lisa T Emrick; Krystal Sully; Chaya N Murali; Lindsay C Burrage; Julie Ana Plaud Gonzalez; Mered Parnes; Jennifer Friedman; Bertrand Isidor; Jérémie Lefranc; Sylvia Redon; Delphine Heron; Cyril Mignot; Boris Keren; Mélanie Fradin; Christele Dubourg; Sandra Mercier; Thomas Besnard; Benjamin Cogne; Wallid Deb; Clotilde Rivier; Donatella Milani; Maria Francesca Bedeschi; Claudia Di Napoli; Federico Grilli; Paola Marchisio; Suzanna Koudijs; Danielle Veenma; Emanuela Argilli; Sally Ann Lynch; Ping Yee Billie Au; Fernando Eduardo Ayala Valenzuela; Carolyn Brown; Diane Masser-Frye; Marilyn Jones; Leslie Patron Romero; Wenhui Laura Li; Erin Thorpe; Laura Hecher; Jessika Johannsen; Jonas Denecke; Vanda McNiven; Anna Szuto; Emma Wakeling; Vincent Cruz; Valerie Sency; Heng Wang; Juliette Piard; Fanny Kortüm; Theresia Herget; Tatjana Bierhals; Angelo Condell; Bruria Ben-Zeev; Simranpreet Kaur; John Christodoulou; Amelie Piton; Christiane Zweier; Cornelia Kraus; Alessia Micalizzi; Marina Trivisano; Nicola Specchio; Gaetan Lesca; Rikke S Møller; Zeynep Tümer; Maria Musgaard; Benedicte Gerard; Johannes R Lemke; Yun Stone Shi; Anders S Kristensen
Rinaldi, B, Bayat, A, Zachariassen, L G, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, L H, Awad, I A A, Bagiran, D, Sbeih, A, Shah, S M, El-Sayed, S, Lyngby, S M, Pedersen, M G, Stenum-Berg, C, Walker, L C, Krey, I, Delahaye-Duriez, A, Emrick, L T, Sully, K, Murali, C N, Burrage, L C, Plaud Gonzalez, J A, Parnes, M, Friedman, J, Isidor, B, Lefranc, J, Redon, S, Heron, D, Mignot, C, Keren, B, Fradin, M, Dubourg, C, Mercier, S, Besnard, T, Cogne, B, Deb, W, Rivier, C, Milani, D, Bedeschi, M F, Di Napoli, C, Grilli, F, Marchisio, P, Koudijs, S, Veenma, D, Argilli, E, Lynch, S A, Au, P Y B, Ayala Valenzuela, F E, Brown, C, Masser-Frye, D, Jones, M, Patron Romero, L, Li, W L, Thorpe, E, Hecher, L, Johannsen, J, Denecke, J, McNiven, V, Szuto, A, Wakeling, E, Cruz, V, Sency, V, Wang, H, Piard, J, Kortüm, F, Herget, T, Bierhals, T, Condell, A, Zeev, B B, Kaur, S, Christodoulou, J, Piton, A, Zweier, C, Kraus, C, Micalizzi, A, Trivisano, M, Specchio, N, Lesca, G, Møller, R S, Tümer, Z, Musgaard, M, Gerard, B, Lemke, J R, Shi, Y S & Kristensen, A S 2024, ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ', Brain, vol. 147, no. 5, pp. 1837-1855 . https://doi.org/10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Academic Journal
Changuk Chung; Xiaoxu Yang; Taejeong Bae; Keng Ioi Vong; Swapnil Mittal; Catharina Donkels; H. Westley Phillips; Zhen Li; Ashley P. L. Marsh; Martin W. Breuss; Laurel L. Ball; Camila Araújo Bernardino Garcia; Renee D. George; Jing Gu; Mingchu Xu; Chelsea Barrows; Kiely N. James; Valentina Stanley; Anna S. Nidhiry; Sami Khoury; Gabrielle Howe; Emily Riley; Xin Xu; Brett Copeland; Yifan Wang; Se Hoon Kim; Hoon-Chul Kang; Andreas Schulze-Bonhage; Carola A. Haas; Horst Urbach; Marco Prinz; David D. Limbrick; Christina A. Gurnett; Matthew D. Smyth; Shifteh Sattar; Mark Nespeca; David D. Gonda; Katsumi Imai; Yukitoshi Takahashi; Hsin-Hung Chen; Jin-Wu Tsai; Valerio Conti; Renzo Guerrini; Orrin Devinsky; Wilson A. Silva; Helio R. Machado; Gary W. Mathern; Alexej Abyzov; Sara Baldassari; Stéphanie Baulac; Joseph G. Gleeson; Marilyn Jones; Diane Masser-Frye; Yasemin Alanay; Seema Kapoor; Georgia Ramantani; Thomas Feuerstein; Ingmar Blumcke; Robyn Busch; Zhong Ying; Vadym Biloshytsky; Kostiantyn Kostiuk; Eugene Pedachenko; Ingo Helbig; Benjamin C. Kennedy; Judy Liu; Felix Chan; Darcy Krueger; Richard Frye; Angus Wilfong; David Adelson; William Gaillard; Chima Oluigbo; Anne Anderson; Alice Lee; August Yue Huang; Alissa D’Gama; Caroline Dias; Christopher A. Walsh; Eduardo Maury; Javier Ganz; Michael Lodato; Michael Miller; Pengpeng Li; Rachel Rodin; Rebeca Borges-Monroy; Robert Hill; Sara Bizzotto; Sattar Khoshkhoo; Sonia Kim; Zinan Zhou; Alison Barton; Alon Galor; Chong Chu; Craig Bohrson; Doga Gulhan; Elaine Lim; Euncheon Lim; Giorgio Melloni; Isidro Cortes; Jake Lee; Joe Luquette; Lixing Yang; Maxwell Sherman; Michael Coulter; Minseok Kwon; Peter J. Park; Semin Lee; Soo Lee; Vinary Viswanadham; Yanmei Dou; Andrew J. Chess; Attila Jones; Chaggai Rosenbluh; Schahram Akbarian; Ben Langmead; Jeremy Thorpe; Sean Cho; Andrew Jaffe; Apua Paquola; Daniel Weinberger; Jennifer Erwin; Jooheon Shin; Michael McConnell; Richard Straub; Rujuta Narurkar; Yeongjun Jang; Anjene Addington; Geetha Senthil; Cindy Molitor; Mette Peters; Fred H. Gage; Meiyan Wang; Patrick Reed; Sara Linker; Alexander Urban; Bo Zhou; Reenal Pattni; Xiaowei Zhu; Aitor Serres Amero; David Juan; Inna Povolotskaya; Irene Lobon; Manuel Solis Moruno; Raquel Garcia Perez; Tomas Marques-Bonet; Eduardo Soriano; Gary Mathern; Danny Antaki; Dan Averbuj; Eric Courchesne; Subhojit Roy; Chen Sun; Diane A. Flasch; Trenton J. Frisbie Trenton; Huira C. Kopera; Jeffrey M. Kidd; John B. Moldovan; John V. Moran; Kenneth Y. Kwan; Ryan E. Mills; Sarah B. Emery; Weichen Zhou; Xuefang Zhao; Aakrosh Ratan; Adriana Cherskov; Alexandre Jourdon; Flora M. Vaccarino; Liana Fasching; Nenad Sestan; Sirisha Pochareddy; Soraya Scuder
Nature Genetics, vol 55, iss 2
Academic Journal
Neda Ghassemi; Eric Rupe; Mishella Perez; Leah Lamale‐Smith; Victoria M. Fratto; Nikdokht Farid; Michael Hahn; Gladys A. Ramos; Yoona Ho; Rebecca Rakow‐Penner; Katelyn Horton; Sohini Khan; Marilyn Jones; Dolores H. Pretorius
Journal of Ultrasound in Medicine. 39:2389-2403
Academic Journal
Michael D. Fountain; David S. Oleson; Megan E. Rech; Lara Segebrecht; Jill V. Hunter; John M. McCarthy; Philip J. Lupo; Manuel Holtgrewe; Rocio Moran; Jill A. Rosenfeld; Bertrand Isidor; Cédric Le Caignec; Margarita S. Saenz; Robert C. Pedersen; Thomas M. Morgan; Jean P. Pfotenhauer; Fan Xia; Weimin Bi; Sung-Hae L. Kang; Ankita Patel; Ian D. Krantz; Sarah E. Raible; Wendy Smith; Ingrid Cristian; Erin Torti; Jane Juusola; Francisca Millan; Ingrid M. Wentzensen; Richard E. Person; Sébastien Küry; Stéphane Bézieau; Kévin Uguen; Claude Férec; Arnold Munnich; Mieke van Haelst; Klaske D. Lichtenbelt; Koen van Gassen; Tanner Hagelstrom; Aditi Chawla; Denise L. Perry; Ryan J. Taft; Marilyn Jones; Diane Masser-Frye; David Dyment; Sunita Venkateswaran; Chumei Li; Luis F. Escobar; Denise Horn; Rebecca C. Spillmann; Loren Peña; Jolanta Wierzba; Tim M. Strom; Ilaria Parenti; Frank J. Kaiser; Nadja Ehmke; Christian P. Schaaf
Genet Med
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, 'Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807. https://doi.org/10.1038/s41436-019-0433-1
Genet. Med. 21, 1797-1807 (2019)
Genetics in Medicine, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, 'Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807. https://doi.org/10.1038/s41436-019-0433-1
Genet. Med. 21, 1797-1807 (2019)
Genetics in Medicine, vol 21, iss 8
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