1. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. (16th January 2019) Authors: Guillemyn, Brecht; Kayserili, Hülya; Demuynck, Lynn; Sips, Patrick; De Paepe, Anne; Syx, Delfien; Coucke, Paul J; Malfait, Fransiska; Symoens, Sofie Journal: Human molecular genetics Issue: Volume 28:Number 11(2019) Page Start: 1801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome. (22nd January 2019) Authors: Syx, Delfien; De Wandele, Inge; Symoens, Sofie; De Rycke, Riet; Hougrand, Olivier; Voermans, Nicol; De Paepe, Anne; Malfait, Fransiska Journal: Human molecular genetics Issue: Volume 28:Number 11(2019) Page Start: 1853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. (20th June 2018) Authors: Van Damme, Tim; Pang, Xiaomeng; Guillemyn, Brecht; Gulberti, Sandrine; Syx, Delfien; De Rycke, Riet; Kaye, Olivier; de Die-Smulders, Christine E M; Pfundt, Rolph; Kariminejad, Ariana; Nampoothiri, Sheela; Pierquin, Geneviève; Bulk, Saskia; Larson, Austin A; Chatfield, Kathryn C; Simon, Marleen; L... Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome. Issue 10 (26th July 2021) Authors: Colman, Marlies; Syx, Delfien; De Wandele, Inge; Dhooge, Tibbe; Symoens, Sofie; Malfait, Fransiska Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. (21st May 2015) Authors: Syx, Delfien; Guillemyn, Brecht; Symoens, Sofie; Sousa, Ana Berta; Medeira, Ana; Whiteford, Margo; Hermanns‐Lê, Trinh; Coucke, Paul J; De Paepe, Anne; Malfait, Fransiska Journal: Journal of bone and mineral research Issue: Volume 30:Number 8(2015:Aug.) Page Start: 1445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Issue 5 (4th March 2020) Authors: Lautrup, Charlotte K.; Teik, Keng W.; Unzaki, Ai; Mizumoto, Shuji; Syx, Delfien; Sin, Heng H.; Nielsen, Irene K.; Markholt, Sara; Yamada, Shuhei; Malfait, Fransiska; Matsumoto, Naomichi; Miyake, Noriko; Kosho, Tomoki Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country. Issue 9 (14th July 2014) Authors: Nampoothiri, Sheela; Yesodharan, Dhanya; Sainulabdin, Gazel; Narayanan, Dhanyalakshmi; Padmanabhan, Laxmi; Girisha, Katta Mohan; Cathey, Sara S.; De Paepe, Anne; Malfait, Fransiska; Syx, Delfien; Hennekam, Raoul C.; Bonafe, Luisa; Unger, Sheila; Superti‐Furga, Andrea Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exploring pain mechanisms in hypermobile Ehlers‐Danlos syndrome: A case–control study. (11th May 2022) Authors: De Wandele, Inge; Colman, Marlies; Hermans, Linda; Van Oosterwijck, Jessica; Meeus, Mira; Rombaut, Lies; Brusselmans, Griet; Syx, Delfien; Calders, Patrick; Malfait, Fransiska Journal: European journal of pain Issue: Volume 26:Number 6(2022) Page Start: 1355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗