Search Results - "Skopinski, Laurent"

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 by Bondurand, Nadege, Dastot-Le Moal, Florence, Stanchina, Laure, Collot, Nathalie, Baral, Viviane, Marlin, Sandrine, Attie-Bitach, Tania, Giurgea, Irina, Skopinski, Laurent, Reardon, William, Toutain, Annick, Sarda, Pierre, Echaieb, Anis, Lackmy-Port-Lis, Marilyn, Touraine, Renaud, Amiel, Jeanne, Goossens, Michel, Pingault, Veronique

“…Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the…”
Get full text

Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia by Bradai, Mohamed, Abad, Mohand Tayeb, Pissard, Serge, Lamraoui, Fatima, Skopinski, Laurent, de Montalembert, Mariane

“…Hydroxyurea (HU) enhances fetal hemoglobin (Hb) production. An increase in total Hb level has been repeatedly reported during HU treatment in patients with…”
Get full text

Pyruvate kinase deficiency in France: a 3‐year study reveals 27 new mutations by Pissard, Serge, Max‐Audit, Isabelle, Skopinski, Laurent, Vasson, Aurélie, Vivien, Pascal, Bimet, Catherine, Goossens, Michel, Galacteros, Frederic, Wajcman, Henri

“…Summary Pyruvate kinase (PK) deficiency is the most common enzyme defect affecting the glycolytic pathway of the erythrocyte. Usually, it is clinically silent…”
Get full text