1. Charcot–Marie–Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study. (23rd June 2021) Authors: Hauw, Fabien; Fargeot, Guillaume; Adams, David; Attarian, Shahram; Cauquil, Cécile; Chanson, Jean‐Baptiste; Créange, Alain; Gendre, Thierry; Deiva, Kumaran; Delmont, Emilien; Francou, Bruno; Genestet, Steeve; Kuntzer, Thierry; Latour, Philippe; Le Masson, Gwendal; Magy, Laurent; Nardin, Clotilde;... Journal: European journal of neurology Issue: Volume 28:Number 9(2021) Page Start: 2846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis. Issue 10 (16th January 2020) Authors: Bunod, Roxane; Adams, David; Cauquil, Cécile; Francou, Bruno; Labeyrie, Céline; Bourenane, Halima; Adam, Clovis; Algalarrondo, Vincent; Slama, Michel; Darce-Bello, Martha; Barreau, Emmanuel; Labetoulle, Marc; Rousseau, Antoine Journal: British journal of ophthalmology Issue: Volume 104:Issue 10(2020) Page Start: 1363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory. (6th December 2021) Authors: Chappell, Kenneth; Francou, Bruno; Habib, Christophe; Huby, Thomas; Leoni, Marco; Cottin, Aurélien; Nadal, Florian; Adnet, Eric; Paoli, Eric; Oliveira, Christophe; Verstuyft, Céline; Davit-Spraul, Anne; Gaignard, Pauline; Lebigot, Elise; Duclos-Vallee, Jean-Charles; Young, Jacques; Kamenicky, Pet... Journal: Clinical chemistry Issue: Volume 68:Number 2(2022) Page Start: 313 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity. (7th June 2018) Authors: Hanna, Patrick; Grybek, Virginie; Perez de Nanclares, Guiomar; Tran, Léa C; de Sanctis, Luisa; Elli, Francesca; Errea, Javier; Francou, Bruno; Kamenicky, Peter; Linglart, Léa; Pereda, Arrate; Rothenbuhler, Anya; Tessaris, Daniele; Thiele, Susanne; Usardi, Alessia; Shoemaker, Ashley H; Kottler, Ma... Journal: Journal of bone and mineral research Issue: Volume 33:Number 8(2018) Page Start: 1480 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. Issue 3 (March 2018) Authors: Maione, Luigi; Dwyer, Andrew A; Francou, Bruno; Guiochon-Mantel, Anne; Binart, Nadine; Bouligand, Jérôme; Young, Jacques Journal: European journal of endocrinology Issue: Volume 178:Issue 3(2018) Page Start: R55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients. Issue 2 (February 2021) Authors: Pereda, Arrate; Elli, Francesca M; Thiele, Suzanne; de Sanctis, Luisa; Rothenbuhler, Anya; Hanna, Patrick; Francou, Bruno; Ertl, Diana Alexandra; Perez de Nanclares, Guiomar; Linglart, Agnès; Mantovani, Giovanna Journal: European journal of endocrinology Issue: Volume 184:Issue 2(2021) Page Start: 311 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients. Issue 2 (February 2021) Authors: Pereda, Arrate; Elli, Francesca M; Thiele, Suzanne; de Sanctis, Luisa; Rothenbuhler, Anya; Hanna, Patrick; Francou, Bruno; Ertl, Diana Alexandra; Perez de Nanclares, Guiomar; Linglart, Agnès; Mantovani, Giovanna Journal: European journal of endocrinology Issue: Volume 184:Issue 2(2021) Page Start: 311 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Rapid and reliable diagnosis of Wilson disease using X‐ray fluorescence. (6th June 2016) Authors: Kaščáková, Slávka; Kewish, Cameron M.; Rouzière, Stéphan; Schmitt, Françoise; Sobesky, Rodolphe; Poupon, Joël; Sandt, Christophe; Francou, Bruno; Somogyi, Andrea; Samuel, Didier; Jacquemin, Emmanuel; Dubart‐Kupperschmitt, Anne; Nguyen, Tuan Huy; Bazin, Dominique; Duclos‐Vallée, Jean‐Charles; Guet... Journal: Journal of pathology Issue: Volume 2:Number 3(2016) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome. (27th October 2020) Authors: Hage, Mirella; Drui, Delphine; Francou, Bruno; Mercier, Sandra; Guiochon‐Mantel, Anne; Belaisch‐Allart, Joelle; Péréon, Yann; Cazabat, Laure; De Mazancourt, Philippe; Raffin‐Sanson, Marie Laure Other Names: Agarwal Ashok guestEditor.; Baskaran Saradha guestEditor.; Durairajanayagam Damayanthi guestEditor.; Ramasamy Ranjith guestEditor.; Ko Edmund guestEditor. Journal: Andrologia Issue: Volume 53:Number 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome. (27th October 2020) Authors: Hage, Mirella; Drui, Delphine; Francou, Bruno; Mercier, Sandra; Guiochon‐Mantel, Anne; Belaisch‐Allart, Joelle; Péréon, Yann; Cazabat, Laure; De Mazancourt, Philippe; Raffin‐Sanson, Marie Laure Other Names: Agarwal Ashok guestEditor.; Baskaran Saradha guestEditor.; Durairajanayagam Damayanthi guestEditor.; Ramasamy Ranjith guestEditor.; Ko Edmund guestEditor. Journal: Andrologia Issue: Volume 53:Number 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗