Ghent University Academic Bibliography

Your filters: cql: author="Rinne, Tuula" or (type any "bookEditor issueEditor" and editor="Rinne, Tuula")

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- Journal Article
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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- Journal Article
- A1
- open access
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Yolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, Arianne B Dessens, Irene A L Groenenberg, Maarten F C M Knapen, Elfride De Baere (UGent) , Martine Cools (UGent) , Conny M A van Ravenswaaij-Arts, Birgit Sikkema-Raddatz, et al.

(2020) JOURNAL OF MEDICAL GENETICS. 57(9). p.581-589
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Thabo M. Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H. Gerkes, Andrew E. Fry, Michael J. Parker, Mary O'Driscoll, Perrine Charles, Helen Cox, et al.

(2020) HUMAN MUTATION. 41(5). p.1042-1050
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- Miscellaneous
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Diagnostiek bij disorders/differences of sex development (DSD)

Yolande van Bever, Hennie Bruggenwirth, Arianne Dessens (UGent) , Sabine Hannema, Katja Wolffenbuttel, Elfride De Baere (UGent) , Martine Cools (UGent) , Maaike Haadsma, Conny van Ravenswaaij-Arts, Birgit Sikkema-Radatz, et al.

(2017)

Academic Bibliography

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Diagnostiek bij disorders/differences of sex development (DSD)

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