학술논문
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'학술논문'
에서 검색결과 16건 | 목록
1~20
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101186- (2024)
Academic Journal
Lucie Dupuis; Anna Szuto; Christian Marshall; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Vanda McNiven
Genetics in Medicine Open, Vol 2, Iss , Pp 101282- (2024)
Academic Journal
Edward Higginbotham; Lynette Lau; Bhooma Thiruvahindrapuram; Jeffrey MacDonald; Wilson Sung; Olivia Moran; Afia Hasnain; Dimitri Stavropoulos; Melanie Beaulieu Bergeron; Kym Boycott; Vanda McNiven; Kathy Chun
Genetics in Medicine Open, Vol 2, Iss , Pp 101644- (2024)
Academic Journal
Cosima M. Schmid; Anne Gregor; Anna Ruiz; Carmen Manso Bazús; Isabella Herman; Farah Ammouri; Urania Kotzaeridou; Vanda McNiven; Lucie Dupuis; Katharina Steindl; Anaïs Begemann; Anita Rauch; Aude-Annick Suter; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Benjamin Cogné; Wallid Deb; Thomas Besnard; Tobias B. Haack; Ruth J. Falb; Amelie J. Müller; Tobias Linden; Chad R. Haldeman-Englert; Charlotte W. Ockeloen; Francesca Mattioli; Alexandre Reymond; Nazia Ibrahim; Shagufta Naz; Elodie Lacaze; Jennifer A. Bassetti; Julia Hoefele; Theresa Brunet; Korbinian M. Riedhammer; Houda Z. Elloumi; Richard Person; Fanggeng Zou; Juliette J. Kahle; Kirsten Cremer; Axel Schmidt; Marie-Ange Delrue; Pedro M. Almeida; Fabiana Ramos; Siddharth Srivastava; Aisling Quinlan; Stephen Robertson; Eva Manka; Alma Kuechler; Stephanie Spranger; Malgorzata J. M. Nowaczyk; Reem M. Elshafie; Hind Alsharhan; Paul R. Hillman; Leslie A. Dunnington; Hilde M. H. Braakman; Shane McKee; Angelica Moresco; Andrea-Diana Ignat; Ruth Newbury-Ecob; Guillaume Banneau; Olivier Patat; Jeffrey Kuerbitz; Susan Rzucidlo; Susan S. Sell; Patricia Gordon; Sarah Schuhmann; André Reis; Yosra Halleb; Radka Stoeva; Boris Keren; Zainab Al Masseri; Zeynep Tümer; Sophia Hammer-Hansen; Sofus Krüger Sølyst; Connolly G. Steigerwald; Nicolas J. Abreu; Helene Faust; Amica Müller-Nedebock; Frédéric Tran Mau-Them; Heinrich Sticht; Christiane Zweier
Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2
Academic Journal
Catherine Stratton; Andrew Taylor; Menelaos Konstantinidis; Vanda McNiven; Peter Kannu; Peter Gill; Ian Stedman; Areti Angeliki Veroniki; Martin Offringa; Beth Potter; Durhane Wong-Rieger; John Adams; Kathy Hodgkinson; Alison M. Elliott; Alexandra Neville; Marie Faughnan; Sarah Dyack; Pavel Zhelnov; Jennifer Daly-Cyr; Jessie McGowan; Sharon Straus; Maureen Smith; Laura Rosella; Andrea C. Tricco
JBI Evidence Synthesis. 23:546-553
Academic Journal
Kaitlin J. Stanley; Kelsey J. Kalbfleisch; Olivia M. Moran; Rajiv R. Chaturvedi; Maian Roifman; Xin Chen; Roozbeh Manshaei; Nicole Martin; Simina McDermott; Vanda McNiven; Diane Myles-Reid; Lynne E. Nield; Miriam S. Reuter; Marci L. B. Schwartz; Patrick Shannon; Rachel Silver; Cherith Somerville; Ronni Teitelbaum; Laura Zahavich; Anne S. Bassett; Raymond H. Kim; Seema Mital; David Chitayat; Rebekah K. Jobling
Eur J Hum Genet
Academic Journal
Anastasia Ambrose; Vanda McNiven; Diane Wilson; Aleksandra Tempes; Mary Underwood; Vann Chau; Andreas Schulze; Agnieszka Wyszynska; Karl Desch; Anna R. Malik; Saadet Mercimek-Andrews
Neurol Genet
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
Matthew B. Lanktree; Shaymaa Shurrab; Resham Ejaz; Vanda McNiven; Lauren Brick; Nithiakishna Selvathesan; Peter Margetts; Azim Gangji; Marie Pigeyre; Alexander Chang; Christie P. Thomas; Mathieu Lemaire
Seminars in Nephrology. 45:151648
Academic Journal
Taila Hartley; Élisabeth Soubry; Meryl Acker; Matthew Osmond; Madeline Couse; Meredith K. Gillespie; Yoko Ito; Aren E. Marshall; Gabrielle Lemire; Lijia Huang; Caitlin Chisholm; Alison J. Eaton; E. Magda Price; James J. Dowling; Arun K. Ramani; Roberto Mendoza‐Londono; Gregory Costain; Michelle M. Axford; Anna Szuto; Vanda McNiven; Nadirah Damseh; Rebekah Jobling; Leanne de Kock; Bahareh A. Mojarad; Ted Young; Zhuo Shao; Robin Z. Hayeems; Ian D. Graham; Mark Tarnopolsky; Lauren Brady; Christine M. Armour; Michael Geraghty; Julie Richer; Sarah Sawyer; Matthew Lines; Saadet Mercimek‐Andrews; Melissa T. Carter; Gail Graham; Peter Kannu; Joanna Lazier; Chumei Li; Ritu B. Aul; Tugce B. Balci; Nomazulu Dlamini; Lauren Badalato; Andrea Guerin; Jagdeep Walia; David Chitayat; Ronald Cohn; Hanna Faghfoury; Cynthia Forster‐Gibson; Hernan Gonorazky; Eyal Grunebaum; Michal Inbar‐Feigenberg; Natalya Karp; Chantal Morel; Alison Rusnak; Neal Sondheimer; Jodi Warman‐Chardon; Priya T. Bhola; Danielle K. Bourque; Inara J. Chacon; Lauren Chad; Pranesh Chakraborty; Karen Chong; Asif Doja; Elaine Suk‐Ying Goh; Maha Saleh; Beth K. Potter; Christian R. Marshall; David A. Dyment; Kristin Kernohan; Kym M. Boycott
Clinical Genetics. 103:288-300
Academic Journal
Rebekah Jobling; Kaitlin Stanley; Kelsey Kalbfleisch; Olivia Moran; Rajiv Chaturvedi; Maian Roifman; Roozbeh Manshaei; Nicole Martin; Simina McDermott; Vanda McNiven; Diane Myles-Reid; Lynne Nield; Miriam Reuter; Marci Schwartz; Patrick Shannon; Rachel Silver; Cherith Somerville; Ronni Teitelbaum; Laura Zahavich; Anne Bassett; Raymond Kim; Seema Mital; David Chitayat
Academic Journal
Hebah Qashqari; Vanda McNiven; Hernan Gonorazky; Roberto Mendoza-Londono; Ahmad Hassan; Tapas Kulkarni; Kimberly Amburgey; James J. Dowling
Neuromuscular Disorders. 32:842-844
Academic Journal
Vanda McNiven; Daniela Gattini; Iram Siddiqui; Stephane Pelletier; Herbert Brill; Yaron Avitzur; Saadet Mercimek‐Andrews
American Journal of Medical Genetics Part A. 185:1091-1097
Academic Journal
Taila Hartley; Deborah Marshall; Meryl Acker; Katharine Fooks; Meredith K. Gillespie; E. Magda Price; Ian D. Graham; Alexandre White-Brown; Layla MacKay; Stella K. Macdonald; Lauren Brady; Angela Y. Hui; Joseph D. Andrews; Ashfia Chowdhury; Erika Wall; Élisabeth Soubry; Grace U. Ediae; Samantha Rojas; Daniel Assamad; David Dyment; Mark Tarnopolsky; Sarah L. Sawyer; Caitlin Chisholm; Gabrielle Lemire; Kimberly Amburgey; Joanna Lazier; Roberto Mendoza-Londono; James J. Dowling; Tugce B. Balci; Christine M. Armour; Priya T. Bhola; Gregory Costain; Lucie Dupuis; Melissa Carter; Lauren Badalato; Julie Richer; Christie Boswell-Patterson; Peter Kannu; Dawn Cordeiro; Jodi Warman-Chardon; Gail Graham; Victoria Mok Siu; Cheryl Cytrynbaum; Alison Rusnak; Ritu B. Aul; Grace Yoon; Hernan Gonorazky; Vanda McNiven; Saadet Mercimek-Andrews; Andrea Guerin; Ashish R. Deshwar; Ashish Marwaha; Rosanna Weksberg; Natalya Karp; Maggie Campbell; Sarah Al-Qattan; Andrew Y. Shuen; Michal Inbar-Feigenberg; Ronald Cohn; Anna Szuto; Cara Inglese; Myriam Poirier; Lauren Chad; Beth Potter; Kym M. Boycott; Robin Hayeems; Kym Boycott; Michael Brudno; Francois Bernier; Clara van Karnebeek; Kristin Kernohan; Micheil Innes; Ryan Lamont; Jillian Parboosingh; Christian Marshall; Roberto Mendoza; James Dowling; Bartha Knoppers; Anna Lehman; Sara Mostafavi
Genetics in Medicine. 26:101012
Academic Journal
Parkinsonism & Related Disorders. 106:105239
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