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Author/Creator Roelens, Filip

1. Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. (June 2017)

Authors:
Jansen, Anna C.; Vandervore, Laura; Tanyalçin, Ibrahim; Vanderhasselt, Tim; Roelens, Filip; Holder-Espinasse, Muriel; Jørgensen, Agnete; Pepin, Melanie G.; Petit, Florence; Van Kien, Philippe Khau; Bahi-Buisson, Nadia; Lissens, Willy; Gheldof, Alexander; Byers, Peter H.; Stouffs, Katrien
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e61
Record Type:
Journal Article
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2. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. Issue 6 (3rd March 2017)

Authors:
Vandervore, Laura; Stouffs, Katrien; Tanyalçin, Ibrahim; Vanderhasselt, Tim; Roelens, Filip; Holder-Espinasse, Muriel; Jørgensen, Agnete; Pepin, Melanie G; Petit, Florence; Khau Van Kien, Philippe; Bahi-Buisson, Nadia; Lissens, Willy; Gheldof, Alexander; Byers, Peter H; Jansen, Anna C
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 6(2017)
Page Start:
432
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Issue 2 (16th August 2020)

Authors:
Marti‐Sanchez, Laura; Baide‐Mairena, Heidy; Marcé‐Grau, Anna; Pons, Roser; Skouma, Anastasia; López‐Laso, Eduardo; Sigatullina, Maria; Rizzo, Cristiano; Semeraro, Michela; Martinelli, Diego; Carrozzo, Rosalba; Dionisi‐Vici, Carlo; González‐Gutiérrez‐Solana, Luis; Correa‐Vela, Marta; Ortigoza‐Esco...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
401
Record Type:
Journal Article
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5. PRRT2 mutations: exploring the phenotypical boundaries. Issue 4 (7th October 2013)

Authors:
Djémié, Tania; Weckhuysen, Sarah; Holmgren, Philip; Hardies, Katia; Van Dyck, Tine; Hendrickx, Rik; Schoonjans, An-Sofie; Van Paesschen, Wim; Jansen, Anna C; De Meirleir, Linda; Selim, Laila Abdel Moteleb; Girgis, Marian Y; Buyse, Gunnar; Lagae, Lieven; Smets, Katrien; Smouts, Iris; Claeys, Krist...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 85:Issue 4(2014)
Page Start:
462
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗