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Author/Creator Ceuterick‐de Groote, Chantal

1. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Issue 3 (12th December 2019)

Authors:
Bauwens, Miriam; Storch, Stephan; Weisschuh, Nicole; Ceuterick‐de Groote, Chantal; De Rycke, Riet; Guillemyn, Brecht; De Jaegere, Sarah; Coppieters, Frauke; Van Coster, Rudy; Leroy, Bart P.; De Baere, Elfride
Journal:
Clinical genetics
Issue:
Volume 97:Issue 3(2020)
Page Start:
426
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. Issue 7 (29th April 2016)

Authors:
Scalais, Emmanuel; Connerotte, Anne‐Catherine; Despontin, Karine; Biver, Armand; Ceuterick‐de Groote, Chantal; Alders, Marielle; Kolivras, Athanassios; Hachem, Jean‐Pierre; De Meirleir, Linda
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 7(2016)
Page Start:
1799
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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