1. Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference. (18th October 2018) Authors: Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; Bento, Celeste; Bouva, Marelle J.; Canatan, Duran; Charlton, Matthew; Coppinger, Cathy; Daniel, Yvonne; de Montalembert, Marianne; Ducoroy, Patrick; Dulin, Elena; Fing... Journal: British journal of haematology Issue: Volume 183:Number 4(2018) Page Start: 648 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Issue 5 (6th March 2019) Authors: Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören‐Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P.; Ripperger, Tim; Azizi, Amedeo A.; Baris Feldman, Hagit; Chong, Anne‐Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Janusz... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers. Issue 4 (7th September 2019) Authors: González-Acosta, Maribel; Marín, Fátima; Puliafito, Benjamin; Bonifaci, Nuria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Grau Garces, Elia; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-García, Pilar; Ayala, Rosa; Florkin,... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network. Issue 4 (14th November 2006) Authors: Antonio Casado, José; Callén, Elsa; Jacome, Ariana; Río, Paula; Castella, Maria; Lobitz, Stephan; Ferro, Teresa; Muñoz, Arturo; Sevilla, Julián; Cantalejo, Ángeles; Cela, Elena; Cervera, José; Sánchez-Calero, Jesús; Badell, Isabel; Estella, Jesús; Dasí, Ángeles; Olivé, Teresa; José Ortega, Juan; ... Journal: Journal of medical genetics Issue: Volume 44:Issue 4(2007) Page Start: 241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Sickle cell disease in Germany: Results from a national registry. Issue 4 (22nd December 2019) Authors: Kunz, Joachim B.; Lobitz, Stephan; Grosse, Regine; Oevermann, Lena; Hakimeh, Dani; Jarisch, Andrea; Cario, Holger; Beier, Rita; Schenk, Daniela; Schneider, Dominik; Groß‐Wieltsch, Ute; Prokop, Aram; Heine, Sabine; Khurana, Claudia; Erlacher, Miriam; Dürken, Matthias; Linke, Christina; Frühwald, M... Journal: Pediatric blood & cancer Issue: Volume 67:Issue 4(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Newborn Screening for Sickle Cell Disease: Technical and Legal Aspects of a German Pilot Study with 38, 220 Participants. (23rd July 2014) Authors: Frömmel, Claudia; Brose, Annemarie; Klein, Jeannette; Blankenstein, Oliver; Lobitz, Stephan Other Names: Bornhaeuser Martin Academic Editor. Journal: BioMed research international Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Haematological characteristics and spontaneous haematological recovery in Pearson syndrome. (10th April 2021) Authors: Yoshimi, Ayami; Grünert, Sarah C.; Cario, Holger; Fisch, Aron; Gross‐Wieltsch, Ute; Timmermann, Kirsten; Kontny, Udo; Lobitz, Stephan; Odenthal, Helen S.; Schmid, Irene; Uetz, Barbara; Höll, Tanja; Rötig, Agnès; Lücke, Thomas; Borkhardt, Arndt; Strauß, Gabriele; Hohnecker, Alexander; Metzler, Mar... Journal: British journal of haematology Issue: Volume 193:Number 6(2021) Page Start: 1283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The epidemiology of sickle cell disease in Germany following recent large‐scale immigration. Issue 7 (6th April 2017) Authors: Kunz, Joachim B.; Cario, Holger; Grosse, Regine; Jarisch, Andrea; Lobitz, Stephan; Kulozik, Andreas E. Journal: Pediatric blood & cancer Issue: Volume 64:Issue 7(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗