1. Atypical myopathy in Père David's deer (Elaphurus davidianus) associated with ingestion of hypoglycin A. (12th May 2018) Authors: Bunert, Carolin; Langer, Sandra; Votion, Dominque M; Boemer, François; Müller, Anja; Ternes, Kerstin; Liesegang, Annette Journal: Journal of animal science Issue: Volume 96:Number 8(2018) Page Start: 3537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. Issue 1 (1st December 2020) Authors: Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; K... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 178 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. (8th June 2022) Authors: Dangouloff, Tamara; Hiligsmann, Mickael; Deconinck, Nicolas; D'Amico, Adèle; Seferian, Andreea M.; Boemer, François; Servais, Laurent Journal: Developmental medicine & child neurology Issue: Volume 65:Number 1(2023) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Management of sickle cell disease: current practices and challenges in a northeastern region of the Democratic Republic of the Congo. Issue 1 (1st January 2021) Authors: Kambale-Kombi, Paul; Marini Djang'eing'a, Roland; Alworong'a Opara, Jean-Pierre; Minon, Jean-Marc; Boemer, François; Bours, Vincent; Tonen-Wolyec, Serge; Kayembe Tshilumba, Charles; Batina-Agasa, Salomon Journal: Hematology Issue: Volume 26:Issue 1(2021) Page Start: 199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation of the iron‐sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. Issue 6 (14th May 2015) Authors: Debray, François‐Guillaume; Stümpfig, Claudia; Vanlander, Arnaud V.; Dideberg, Vinciane; Josse, Claire; Caberg, Jean‐Hubert; Boemer, François; Bours, Vincent; Stevens, René; Seneca, Sara; Smet, Joél; Lill, Roland; van Coster, Rudy Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo. Issue 1 (31st December 2022) Authors: Kasai, Emmanuel Tebandite; Alworong'a Opara, Jean Pierre; Ntokamunda Kadima, Justin; Kalenga, Masendu; Batina Agasa, Salomon; Marini Djang'eing'a, Roland; Boemer, François Journal: Hematology Issue: Volume 27:Issue 1(2022) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pairing parents and offspring's HemoTypeSC Test to validate results and confirm sickle cell pedigree: a case study in Kisangani, the Democratic Republic of the Congo. Issue 1 (31st December 2022) Authors: Kasai, Emmanuel Tebandite; Kadima, Justin Ntokamunda; Alworong'a Opara, Jean Pierre; Boemer, François; Dresse, Marie Françoise; Makani, Julie; Bours, Vincent; Marini Djang'eing'a, Roland; Paul, Kambale-Kombi; Batina Agasa, Salomon Journal: Hematology Issue: Volume 27:Issue 1(2022) Page Start: 853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. Issue 6 (June 2021) Authors: van Riel, Margot; Brison, Nathalie; Baetens, Machteld; Blaumeiser, Bettina; Boemer, François; Bourlard, Laura; Bulk, Saskia; De Leener, Anne; Désir, Julie; Devriendt, Koenraad; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stéphane; Grisart, Bernard; Jan... Journal: Obstetrics and gynecology Issue: Volume 137:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA. (21st July 2020) Authors: Dangouloff, Tamara; Boemer, François; Dideberg, Vinciane; Caberg, Jean-Hubert; Servais, Laurent Journal: Neurology Issue: Volume 95:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗