1. 3D analysis of facial morphology in Dutch children with cancer. (June 2021) Authors: Postema, Floor A.M.; Matthews, Harold; Hopman, Saskia M.J.; Merks, Johannes H.M.; Suttie, Michael; Hoskens, Hanne; Peeters, Hilde; Hennekam, Raoul C.; Claes, Peter; Hammond, Peter Journal: Computer methods and programs in biomedicine Issue: Volume 205(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote. Issue 6 (10th March 2020) Authors: Kariminejad, Ariana; Ghaderi‐Sohi, Siavash; Keshavarz, Elham; Hashemi, Seyed Abolghasem; Parsimehr, Elham; Szenker‐Ravi, Emmanuelle; Khatoo, Muznah; Faraji Zonooz, Mehrshid; Reversade, Bruno; Najmabadi, Hossein; Hennekam, Raoul C. Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome. Issue 11 (8th September 2018) Authors: Abarca Barriga, Hugo H.; Caballero, Nathaly; Trubnykova, Milana; Castro‐Mujica, María del Carmen; La Serna‐Infantes, Jorge E.; Vásquez, Flor; Hennekam, Raoul C. Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome. Issue 9 (8th September 2018) Authors: Castori, Marco; Ott, Claus‐Eric; Bisceglia, Luigi; Leone, Maria Pia; Mazza, Tommaso; Castellana, Stefano; Tomassi, Jurgen; Lanciotti, Silvia; Mundlos, Stefan; Hennekam, Raoul C.; Kornak, Uwe; Brancati, Francesco Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2028 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. Issue 7 (30th April 2017) Authors: Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C.; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1896 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview. Issue 8 (19th May 2016) Authors: De Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 1989 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Benign and malignant tumors in Rubinstein–Taybi syndrome. Issue 3 (23rd January 2018) Authors: Boot, Max V.; van Belzen, Martine J.; Overbeek, Lucy I.; Hijmering, Nathalie; Mendeville, Matias; Waisfisz, Quinten; Wesseling, Pieter; Hennekam, Raoul C.; de Jong, Daphne Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. Issue 4 (8th February 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review. Issue 1 (22nd August 2017) Authors: Postema, Floor A.M.; Hopman, Saskia M.J.; Hennekam, Raoul C.; Merks, Johannes H.M. Journal: Pediatric blood & cancer Issue: Volume 65:Issue 1(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Issue 8 (24th May 2017) Authors: Postema, Floor A. M.; Hopman, Saskia M. J.; Deardorff, Matthew A.; Merks, Johannes H. M.; Hennekam, Raoul C. Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗