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Author/Creator Verdin, Hannah

1. Biallelic and monoallelic ESR2 variants associated with 46, XY disorders of sex development. (July 2018)

Authors:
Baetens, Dorien; Güran, Tülay; Mendonca, Berenice B; Gomes, Nathalia L; De Cauwer, Lode; Peelman, Frank; Verdin, Hannah; Vuylsteke, Marnik; Van der Linden, Malaïka; Atay, Zeynep; Bereket, Abdullah; de Krijger, Ronald R; Preter, Katleen de; Domenice, Sorahia; Turan, Serap; Stoop, Hans; Looijenga, ...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 7(2018)
Page Start:
717
Record Type:
Journal Article
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2. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. (4th July 2021)

Authors:
Van Hoorde, Tom; Nerinckx, Fanny; Kreps, Elke; Roels, Dimitri; Huyghe, Philippe; Van Heetvelde, Mattias; Verdin, Hannah; De Baere, Elfride; Balikova, Irina; Leroy, Bart P.
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 4(2021)
Page Start:
493
Record Type:
Journal Article
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3. Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1. Issue 12 (1st October 2015)

Authors:
Coppieters, Frauke; Todeschini, Anne Laure; Fujimaki, Takuro; Baert, Annelot; De Bruyne, Marieke; Van Cauwenbergh, Caroline; Verdin, Hannah; Bauwens, Miriam; Ongenaert, Maté; Kondo, Mineo; Meire, Françoise; Murakami, Akira; Veitia, Reiner A.; Leroy, Bart P.; De Baere, Elfride
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1188
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗