1. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. Issue 2 (10th November 2010) Authors: Dimitrov, Boyan; Balikova, Irina; de Ravel, Thomy; Van Esch, Hilde; De Smedt, Maryse; Baten, Emiel; Vermeesch, Joris Robert; Bradinova, Irena; Simeonov, Emil; Devriendt, Koen; Fryns, Jean-Pierre; Debeer, Philippe Journal: Journal of medical genetics Issue: Volume 48:Issue 2(2011) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains. Issue 7 (6th April 2016) Authors: Masset, Heleen; Hestand, Matthew S.; Van Esch, Hilde; Kleinfinger, Pascale; Plaisancié, Julie; Afenjar, Alexandra; Molignier, Romain; Schluth‐Bolard, Caroline; Sanlaville, Damien; Vermeesch, Joris R. Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function. Issue 4 (18th February 2015) Authors: Okray, Zeynep; de Esch, Celine EF; Van Esch, Hilde; Devriendt, Koen; Claeys, Annelies; Yan, Jiekun; Verbeeck, Jelle; Froyen, Guy; Willemsen, Rob; de Vrij, Femke MS; Hassan, Bassem A Journal: EMBO molecular medicine Issue: Volume 7:Issue 4(2015:Apr.) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. (11th September 2017) Authors: Guarnieri, Fabrizia C; Pozzi, Davide; Raimondi, Andrea; Fesce, Riccardo; Valente, Maria M; Delvecchio, Vincenza S; Van Esch, Hilde; Matteoli, Michela; Benfenati, Fabio; D'Adamo, Patrizia; Valtorta, Flavia Journal: Human molecular genetics Issue: Volume 26:Number 23(2017:Dec. 01) Page Start: 4699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Issue 1 (1st January 2000) Authors: Lichtner, Peter; König, Rainer; Hasegawa, Tomonobu; Van Esch, Hilde; Meitinger, Thomas; Schuffenhauer, Simone Journal: Journal of medical genetics Issue: Volume 37:Issue 1(2000) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. (23rd February 2020) Authors: Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Dühring; Schorge, Stephanie; Baez‐Nieto, David; Wang, Hao‐Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; ... Journal: Epilepsia Issue: Volume 61:issue 3(2020) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Challenges in molecular diagnosis of X-linked Intellectual disability. Issue 1 (11th February 2020) Authors: De Luca, Chiara; Race, Valérie; Keldermans, Liesbeth; Bauters, Marijke; Van Esch, Hilde Journal: British medical bulletin Issue: Volume 133:Issue 1(2020) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the RNA-binding protein quaking. Issue 2 (February 2021) Authors: Zhang, Huayu; Prins, Jurriën; Vreeken, Dianne; Florijn, Barend W; de Bruin, Ruben G; van Hengel, Oscar RJ; van Essen, Mieke F; Duijs, Jacques MGJ; Van Esch, Hilde; van der Veer, Eric P; van Zonneveld, Anton Jan; Gils, Janine M van Journal: Innate immunity Issue: Volume 27:Issue 2(2021) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Conradi–Hünermann–Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C). Issue 4 (11th June 2014) Authors: Lambrecht, Charlotte; Wouters, Carine; Van Esch, Hilde; Moens, Pierre; Casteels, Ingele; Morren, Marie‐Anne Journal: Pediatric dermatology Issue: Volume 31:Issue 4(2014) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing. Issue 3 (17th January 2017) Authors: Ardui, Simon; Race, Valerie; Zablotskaya, Alena; Hestand, Matthew S.; Van Esch, Hilde; Devriendt, Koenraad; Matthijs, Gert; Vermeesch, Joris R. Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗