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Author/Creator Mancini, Grazia Maria Simonetta

1. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. Issue 3 (8th March 2021)

Authors:
Ragamin, Aviel; Gomes, Carolina C; Bindels-de Heus, Karen; Sandoval, Renata; Bassenden, Angelia V; Dib, Luciano; Kok, Fernando; Alves, Julieta; Mathijssen, Irene; Medici-Van den Herik, Evita; Eveleigh, Robert; Gayden, Tenzin; Pullens, Bas; Berghuis, Albert; van Slegtenhorst, Marjon; Wilke, Martin...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 3(2022)
Page Start:
305
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020)

Authors:
Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria S...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 1(2021)
Page Start:
33
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. Issue 2 (7th April 2022)

Authors:
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...
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 2(2023)
Page Start:
183
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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