1. Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice. Issue 5 (23rd October 2020) Authors: Tybl, Elisabeth; Gunshin, Hiromi; Gupta, Sanjay; Barrientos, Tomasa; Bonadonna, Michael; Celma Nos, Ferran; Palais, Gael; Karim, Zoubida; Sanchez, Mayka; Andrews, Nancy C.; Galy, Bruno Journal: HemaSphere Issue: Volume 4:Issue 5(2020) Page Start: e459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies. Issue 11 (10th September 2014) Authors: De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon‐Rodriguez, Maria; Yilmaz‐Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Gran... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Issue 1 (December 2017) Authors: Van de Sompele, Stijn; Pécheux, Lucie; Couso, Jorge; Meunier, Audrey; Sanchez, Mayka; De Baere, Elfride Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper. Issue 6 (6th June 2022) Authors: Roy, Noémi B. A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; del Mar Mañú-Pereira, Maria; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; van Wijk, Richard; van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille Journal: HemaSphere Issue: Volume 6:Issue 6(2022) Page Start: e739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper. (6th June 2022) Authors: Roy, Noémi B. A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Mañú‐Pereira, Maria del Mar; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; van Wijk, Richard; van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille Journal: British journal of haematology Issue: Volume 198:Number 3(2022) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications. (24th July 2013) Authors: Athiyarath, Rekha; Arora, Neeraj; Fuster, Francisco; Schwarzenbacher, Robert; Ahmed, Rayaz; George, Biju; Chandy, Mammen; Srivastava, Alok; Rojas, Ana M.; Sanchez, Mayka; Edison, Eunice S. Journal: British journal of haematology Issue: Volume 163:Number 3(2013:Nov.) Page Start: 404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗