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Author/Creator Destree, Anne

1. Adult phenotype of KCNQ2 encephalopathy. Issue 6 (2nd April 2021)

Authors:
Boets, Stephanie; Johannesen, Katrine M; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Møller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
528
Record Type:
Journal Article
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2. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015)

Authors:
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1052
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. Issue 9 (17th August 2021)

Authors:
Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François‐Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lede...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 9(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗