1. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015) Authors: Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Fig... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. First prenatal PI3K-AKT-mTOR pathway related overgrowth spectrum cohort: Phenotypic and molecular characterization. (March 2019) Authors: Bourgon, Nicolas; Kuentz, Paul; Carmignac, Virginie; Sorlin, Arthur; Duffourd, Yannis; Chevarin, Martin; Jouan, Thibaud; Thauvin, Christel; Vabres, Pierre; Olivier-Faivre, Laurence Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 234(2019) Page Start: e169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis. Issue 6 (25th March 2014) Authors: Masurel‐Paulet, Alice; Drumare, Isabelle; Holder, Muriel; Cuisset, Jean‐Marie; Vallée, Louis; Defoort, Sabine; Bourgois, Béatrice; Pernes, Philippe; Cuvellier, Jean‐Christophe; Huet, Frédéric; Chehadeh, Salima El; Thevenon, Julien; Callier, Patrick; Thauvin, Christel; Faivre, Laurence; Andrieux, ... Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. (4th January 2022) Authors: Riant, Florence; Roos, Caroline; Roubertie, Agathe; Barbance, Cécile; Hadjadj, Jessica; Auvin, Stéphane; Baille, Guillaume; Beltramone, Marion; Boulanger, Cécile; Cahn, Alice; Cata, Florina; Cheuret, Emmanuel; Cuvellier, Jean-Christophe; Defo, Antoine; Demarquay, Genevieve; Donnet, Anne; Gaillard... Journal: Neurology Issue: Volume 98:Number 1(2022) Page Start: e51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. (4th January 2022) Authors: Riant, Florence; Roos, Caroline; Roubertie, Agathe; Barbance, Cécile; Hadjadj, Jessica; Auvin, Stéphane; Baille, Guillaume; Beltramone, Marion; Boulanger, Cécile; Cahn, Alice; Cata, Florina; Cheuret, Emmanuel; Cuvellier, Jean-Christophe; Defo, Antoine; Demarquay, Genevieve; Donnet, Anne; Gaillard... Journal: Neurology Issue: Volume 98:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗