User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 4 results.
    • Journal article
    Facial appearance in persistent hyperinsulinemic hypoglycemia.
    de Lonlay, Pascale Cormier-Daire, Valérie Amiel, Jeanne Touati, Guy Goldenberg, Alice Fournet, Jean-Christophe Brunelle, Francis Nihoul-Fékété, Claire Rahier, Jacques[UCL] Junien, Claudine Robert, Jean-Jacques Saudubray, Jean-Marie (2002) American journal of medical genetics — Vol. 111, no. 2, p. 130-3 (2002)
    • Journal article
    Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
    Bar, Claire Kuchenbuch, Mathieu Barcia, Giulia Schneider, Amy Jennesson, Mélanie Le Guyader, Gwenaël Lesca, Gaetan Mignot, Cyril Montomoli, Martino Parrini, Elena Isnard, Hervé Rolland, Anne Keren, Boris Afenjar, Alexandra Dorison, Nathalie Sadleir, Lynette G Breuillard, Delphine Levy, Raphael Rio, Marlène Dupont, Sophie Negrin, Susanna Danieli, Alberto Scalais, Emmanuel De Saint Martin, Anne El Chehadeh, Salima Chelly, Jamel Poisson, Alice Lebre, Anne-Sophie Nica, Anca Odent, Sylvie Sekhara, Tayeb Brankovic, Vesna Goldenberg, Alice Vrielynck, Pascal[UCL] Lederer, Damien Maurey, Hélène Terrone, Gaetano Besmond, Claude Hubert, Laurence Berquin, Patrick Billette de Villemeur, Thierry Isidor, Bertrand Freeman, Jeremy L Mefford, Heather C Myers, Candace T Howell, Katherine B Rodríguez-Sacristán Cascajo, Andrés Meyer, Pierre Genevieve, David Guët, Agnès Doummar, Diane Durigneux, Julien van Dooren, Marieke F de Wit, Marie Claire Y Gerard, Marion Marey, Isabelle Munnich, Arnold Guerrini, Renzo Scheffer, Ingrid E Kabashi, Edor Nabbout, Rima (2020) Epilepsia — Vol. 61, no.11, p. 2461-2473 (2020)
    • Journal article
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
    Besnard, Thomas Sloboda, Natacha Goldenberg, Alice Küry, Sébastien Cogné, Benjamin Breheret, Flora Trochu, Eva Conrad, Solène Vincent, Marie Deb, Wallid Balguerie, Xavier Barbarot, Sébastien Baujat, Geneviève Ben-Omran, Tawfeg Bursztejn, Anne-Claire Carmignac, Virginie Datta, Alexandre N Delignières, Aline Faivre, Laurence Gardie, Betty Guéant, Jean-Louis Kuentz, Paul Lenglet, Marion Nassogne, Marie-Cécile[UCL] Ramaekers, Vincent Schnur, Rhonda E Si, Yue Torti, Erin Thevenon, Julien Vabres, Pierre Van Maldergem, Lionel Wand, Dorothea Wiedemann, Arnaud Cariou, Bertrand Redon, Richard Lamazière, Antonin Bézieau, Stéphane Feillet, Francois Isidor, Bertrand (2019) Genetics in medicine : official journal of the American College of Medical Genetics — Vol. 21, no.9, p. 2025-2035 (2019)
    • Journal article
    Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
    Bar, Claire Breuillard, Delphine Kuchenbuch, Mathieu Jennesson, Mélanie Le Guyader, Gwenaël Isnard, Hervé Rolland, Anne Doummar, Diane Fluss, Joel Afenjar, Alexandra Berquin, Patrick De Saint Martin, Anne Dupont, Sophie Goldenberg, Alice Lederer, Damien Lesca, Gaétan Maurey, Hélène Meyer, Pierre Mignot, Cyril Nica, Anca Odent, Sylvie Poisson, Alice Scalais, Emmanuel Sekhara, Tayeb Vrielynck, Pascal[UCL] Barcia, Giulia Nabbout, Rima (2022) Epilepsy & behavior : E&B — Vol. 126, p. 108471 [1-8] (2022)