1. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome. (November 2018) Authors: Potuijt, Jacob; Baas, Martijn; Sukenik-Halevy, Rivka; Douben, Hannie; Nguyen, Picard; Venter, Deon; Gallagher, Renée; Swagemakers, Sigrid; Hovius, Steven; van Nieuwenhoven, Christianne; Galjaard, Robert-Jan; van der Spek, Peter; Ahituv, Nadav; de Klein, Annelies Journal: Genetics in medicine Issue: Volume 20:Number 11(2018) Page Start: 1405 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. (1st August 2018) Authors: Slot, Evelien; Edel, Gabriëla; Cutz, Ernest; van Heijst, Arno; Post, Martin; Schnater, Marco; Wijnen, René; Tibboel, Dick; Rottier, Robbert; de Klein, Annelies Journal: Pulmonary circulation Issue: Volume 8:Number 3(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. (August 2018) Authors: Slot, Evelien; Edel, Gabriëla; Cutz, Ernest; van Heijst, Arno; Post, Martin; Schnater, Marco; Wijnen, René; Tibboel, Dick; Rottier, Robbert; de Klein, Annelies Journal: Pulmonary circulation Issue: Volume 8:Number 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An Acute Cellular Rejection With Detrimental Outcome Occurring Under Belatacept-Based Immunosuppressive Therapy: An Immunological Analysis. Issue 5 (May 2016) Authors: de Graav, Gretchen N.; Hesselink, Dennis A.; Dieterich, Marjolein; Kraaijeveld, Rens; Douben, Hannie; de Klein, Annelies; Roelen, Dave L.; Weimar, Willem; Roodnat, Joke I.; Clahsen-van Groningen, Marian C.; Baan, Carla C. Journal: Transplantation Issue: Volume 100:Issue 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Chromosomal rearrangements in uveal melanoma: Chromothripsis. Issue 9 (30th July 2018) Authors: van Poppelen, Natasha M.; Yavuzyigitoglu, Serdar; Smit, Kyra N.; Vaarwater, Jolanda; Eussen, Bert; Brands, Tom; Paridaens, Dion; Kiliç, Emine; de Klein, Annelies Journal: Genes, chromosomes & cancer Issue: Volume 57:Issue 9(2018) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome12. Issue 2 (9th January 2013) Authors: Florisson, Joyce M.G.; Mathijssen, Irene M.J.; Dumee, Belinda; Hoogeboom, Jeannette A.M.; Poddighe, Pino J.; Oostra, Ben A.; Frijns, Jean Pierre; Koster, Linda; de Klein, Annelies; Eussen, Bert; de Vries, Bert B.A.; Swagemakers, Sigrid; van der Spek, Peter J.; Verkerk, Annemieke J.M.H. Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cystic renal‐epithelial derived induced pluripotent stem cells from polycystic kidney disease patients. (12th March 2020) Authors: Kenter, Annegien T.; Rentmeester, Eveline; van Riet, Job; Boers, Ruben; Boers, Joachim; Ghazvini, Mehrnaz; Xavier, Vanessa J.; van Leenders, Geert J.L.H.; Verhagen, Paul C.M.S.; van Til, Marjan E.; Eussen, Bert; Losekoot, Monique; de Klein, Annelies; Peters, Dorien J.M.; van IJcken, Wilfred F.J.;... Journal: Stem cells translational medicine Issue: Volume 9:Number 4(2020) Page Start: 478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. (4th February 2020) Authors: Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A Journal: Human molecular genetics Issue: Volume 29:Number 6(2020) Page Start: 1054 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family. Issue 8 (August 2015) Authors: Olgiati, Simone; Thomas, Astrid; Quadri, Marialuisa; Breedveld, Guido J.; Graafland, Josja; Eussen, Hubertus; Douben, Hannie; de Klein, Annelies; Onofrj, Marco; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 8(2015) Page Start: 981 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family. Issue 8 (August 2015) Authors: Olgiati, Simone; Thomas, Astrid; Quadri, Marialuisa; Breedveld, Guido J.; Graafland, Josja; Eussen, Hubertus; Douben, Hannie; de Klein, Annelies; Onofrj, Marco; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 8(2015) Page Start: 981 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗