1. A highly specific microarray method for point mutation detection. (January 2008) Authors: Baaj, Yasser; Magdelaine, Corinne; Ubertelli, Virginie; Valat, Christophe; Talini, Luc; Soussaline, Françoise; Khomyakova, Elena; Funalot, Benoît; Vallat, Jean-Michel; Sturtz, Franck G. Journal: Biotechniques Issue: Volume 44:Number 1(2008) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients. Issue 8 (20th May 2022) Authors: Mansour‐Hendili, Lamisse; Flamarion, Edouard; Michel, Marc; Morbieu, Caroline; Gameiro, Christine; Sloma, Ivan; Badaoui, Bouchra; Darnige, Luc; Camard, Marion; Lunati‐Rozie, Ariane; Aissat, Abdelrazak; Tarfi, Sihem; Friedrich, Chloé; Picard, Véronique; Garçon, Loïc; Abermil, Nasséra; Kaltenbach, ... Journal: American journal of hematology Issue: Volume 97:Issue 8(2022) Page Start: E285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Central nervous system complications in adult cystinosis patients. Issue 2 (18th September 2019) Authors: Servais, Aude; Saitovitch, Ana; Hummel, Aurélie; Boisgontier, Jennifer; Scemla, Anne; Sberro‐Soussan, Rebecca; Snanoudj, Renaud; Lemaitre, Hervé; Legendre, Christophe; Pontoizeau, Clément; Antignac, Corinne; Anglicheau, Dany; Funalot, Benoît; Boddaert, Nathalie Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of Endoneurial Fibroblast-like Cells from Human and Rat Peripheral Nerves. (June 2014) Authors: Richard, Laurence; Védrenne, Nicolas; Vallat, Jean-Michel; Funalot, Benoît Journal: Journal of histochemistry and cytochemistry Issue: Volume 62:Number 6(2014:Jun.) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CMT4D (NDRG1 mutation): genotype–phenotype correlations. Issue 3 (12th September 2013) Authors: Ricard, Emilie; Mathis, Stéphane; Magdelaine, Corinne; Delisle, Marie‐Bernadette; Magy, Laurent; Funalot, Benoît; Vallat, Jean‐Michel Journal: Journal of the peripheral nervous system Issue: Volume 18:Issue 3(2013) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Issue 1 (December 2016) Authors: Attarian, Shahram; Vallat, Jean-Michel; Magy, Laurent; Funalot, Benoît; Gonnaud, Pierre-Marie; Lacour, Arnaud; Péréon, Yann; Dubourg, Odile; Pouget, Jean; Micallef, Joëlle; Franques, Jérôme; Lefebvre, Marie-Noëlle; Ghorab, Karima; Al-Moussawi, Mahmoud; Tiffreau, Vincent; Preudhomme, Marguerite; M... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation. Issue 9 (2nd June 2021) Authors: Mansour‐Hendili, Lamisse; Egée, Stéphane; Monedero‐Alonso, David; Bouyer, Guillaume; Godeau, Bertrand; Badaoui, Bouchra; Lunati, Ariane; Noizat, Clara; Aissat, Abdelrazak; Kiger, Laurent; Mekki, Chadia; Picard, Véronique; Moutereau, Stéphane; Fanen, Pascale; Bartolucci, Pablo; Garçon, Loïc; Galac... Journal: American journal of hematology Issue: Volume 96:Issue 9(2021) Page Start: E318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE). (16th March 2017) Authors: Gorram, Farida; Alarcon, Flora; Perdry, Hervé; Hébrard, Bérénice; Damy, Thibaud; Fanen, Pascale; Funalot, Benoît; Nuel, Gregory; Planté-Bordeneuve, Violaine Journal: Amyloid Issue: Volume 24(2017)Supplement 1 Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗