Brock, Stefanie 
; Laquerriere, Annie ; Marguet, Florent ; Myers, Scott J ; Hongjie, Yuan ; Baralle, Diana ; Vanderhasselt, Tim ; Stouffs, Katrien ; Keymolen, Kathelijn ; Kim, Sukhan ; Allen, James ; Shaulsky, Gil ; Chelly, Jamel ; Marcorelle, Pascale ; Aziza, Jacqueline ; Villard, Laurent ; Sacaze, Elise ; de Wit, Marie C Y ; Wilke, Martina ; Mancini, Grazia Maria Simonetta ; Hehr, Ute ; Lim, Derek ; Mansour, Sahar ; Traynelis, Stephen F ; Beneteau, Claire ; Denis-Musquer, Marie ; Jansen, Anna C ; Fry, Andrew E ; Bahi-Buisson, Nadia
; Laquerriere, Annie ; Marguet, Florent ; Myers, Scott J ; Hongjie, Yuan ; Baralle, Diana ; Vanderhasselt, Tim ; Stouffs, Katrien ; Keymolen, Kathelijn ; Kim, Sukhan ; Allen, James ; Shaulsky, Gil ; Chelly, Jamel ; Marcorelle, Pascale ; Aziza, Jacqueline ; Villard, Laurent ; Sacaze, Elise ; de Wit, Marie C Y ; Wilke, Martina ; Mancini, Grazia Maria Simonetta ; Hehr, Ute ; Lim, Derek ; Mansour, Sahar ; Traynelis, Stephen F ; Beneteau, Claire ; Denis-Musquer, Marie ; Jansen, Anna C ; Fry, Andrew E ; Bahi-Buisson, Nadia Overlapping cortical malformations in patients with pathogenic variants inGRIN1andGRIN2B
Article
Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J, Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James , Shaulsky, Gil , Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent , Sacaze, Elise, de Wit, Marie C Y, Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F, Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C, Fry, Andrew E and Bahi-Buisson, Nadia
(2022)
Overlapping cortical malformations in patients with pathogenic variants inGRIN1andGRIN2B.
Journal of Medical Genetics 60 (2), pp. 183-192.
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| Item type | Article | ||||
| Journal or Publication Title | Journal of Medical Genetics | ||||
| Publisher | BMJ PUBLISHING GROUP | ||||
| Place of Publication | LONDON | ||||
| Volume | 60 | ||||
| Number of Issue or Book Chapter | 2 | ||||
| Page Range | pp. 183-192 | ||||
| Date | 2022 | ||||
| Date of publication | 18 Mar 2025 09:55 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | INTELLECTUAL DISABILITY; FUNCTIONAL CONSEQUENCES; RARE VARIANTS; MUTATIONS; SUBUNIT; ENCEPHALOPATHY; STANDARDS; MIGRATION; IBOTENATE; MODEL; Nervous System Malformations; Genetics; Pathology; Radiology; Pediatrics | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 75389 |
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