1. A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene. Issue 12 (5th December 2021) Authors: Balza, Claire; Garofalo, Giulia; Cos, Teresa; Désir, Julie; Kang, Xin; Keymolen, Kathelijn; Soblet, Julie; Van Berkel, Kim; Vilain, Catheline; Ben Abbou, Wafa; Cassart, Marie Journal: Clinical case reports Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. Issue 1 (27th September 2017) Authors: Soblet, Julie; Dimov, Ivan; Graf von Kalckreuth, Clemens; Cano‐Chervel, Julie; Baijot, Simon; Pelc, Karin; Sottiaux, Martine; Vilain, Catheline; Smits, Guillaume; Deconinck, Nicolas Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy. Issue 7 (28th May 2022) Authors: Santalucia, Roberto; Vilain, Catheline; Soblet, Julie; De Laet, Corinne; Vuckovic, Aline; König, Jörg; Aeby, Alec Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 7(2022) Page Start: 1095 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. Issue 10 (4th September 2021) Authors: Sassi, Asma; Désir, Julie; Duerinckx, Sarah; Soblet, Julie; Van Dooren, Sonia; Bonduelle, Maryse; Abramowicz, Marc; Delbaere, Anne Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 10(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways. Issue 2 (27th November 2019) Authors: Duerinckx, Sarah; Jacquemin, Valérie; Drunat, Séverine; Vial, Yoann; Passemard, Sandrine; Perazzolo, Camille; Massart, Annick; Soblet, Julie; Racapé, Judith; Desmyter, Laurence; Badoer, Cindy; Papadimitriou, Sofia; Le Borgne, Yann‐Aël; Lefort, Anne; Libert, Frédérick; De Maertelaer, Viviane; Room... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 512 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. New variant in deficiency of interleukin‐36 receptor antagonist syndrome (DITRA). (17th March 2021) Authors: Salik, Déborah; Zoghaib, Samer; Dangoisse, Chantal; Sass, Ursula; Kolivras, Athanasios; Soblet, Julie; Vilain, Catheline Journal: International journal of dermatology Issue: Volume 60:Number 7(2021) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3. Issue 11 (18th August 2020) Authors: Paternoster, Lionel; Soblet, Julie; Aeby, Alec; De Tiège, Xavier; Goldman, Serge; Yue, Wyatt W.; Coppens, Sandra; Smits, Guillaume; Vilain, Catheline; Deconinck, Nicolas Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Three cases of molecularly confirmed Knobloch syndrome. (2nd January 2020) Authors: Balikova, Irina; Sanak, Nuri Serdal; Fanny, Depasse; Smits, Guillaume; Soblet, Julie; de Baere, Elfride; Cordonnier, Monique Journal: Ophthalmic genetics Issue: Volume 41:Number 1(2020) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗