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Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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Your filters: cql: author="Haghshenas, Sadegheh" or (type any "bookEditor issueEditor" and editor="Haghshenas, Sadeg...

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- Journal Article
- A1
- open access
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez Baca (UGent) , Eva Jacobs, Lies Vantomme (UGent) , Pontus LeBlanc (UGent) , Elke Bogaert (UGent) , Annelies Dheedene (UGent) , Laurenz De Cock (UGent) , Sadegheh Haghshenas, Aidin Foroutan, Michael A Levy, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(3). p.509-528
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- Journal Article
- A1
- open access
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert (UGent) , Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc (UGent) , Emma Van Reempts (UGent) , Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.

(2023) AMERICAN JOURNAL OF HUMAN GENETICS. 110(5). p.790-808
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- Journal Article
- A1
- open access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al.

(2022) GENETICS IN MEDICINE. 24(6). p.1261-1273

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