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Human Mutation|February 1, 2011
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsPauline Krug, Vincent Morinière, Sandrine Marlin, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 13, 2004
Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation familyBruno Mortemousque, Patrizia Amati-Bonneau, François Couture, et al.
Neurocase|November 28, 2019
Specific cognitive theory of mind and behavioral dysfunctions in early manifest Huntington disease: a case reportMarie Caillaud, Mickael Laisney, Alexandre Bejanin, et al.
Pharmacology, Biochemistry, and Behavior|January 28, 2006
Modafinil-induced modulation of working memory and plasma corticosterone in chronically-stressed miceChristophe Piérard, Pierrette Liscia, Magalie Valleau, et al.
European Journal of Endocrinology|April 5, 2024
Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunctionTheresa Wittrien, Alban Ziegler, Anne Rühle, et al.
European Journal of Human Genetics : EJHG|March 30, 2007
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosityFrédéric Caux, Henri Plauchu, Frédéric Chibon, et al.
Scientific Reports|December 15, 2015
Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcomeJulie Plée, Sébastien Le Jan, Jérôme Giustiniani, et al.
European Journal of Medical Genetics|December 12, 2022
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicismFederico Di Rocco, Maria Lucia Licci, Aurore Garde, et al.
Journal of the American Academy of Dermatology|July 13, 2011
Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosisOlivia Boccara, Etty Laloum-Grynberg, Géraldine Jeudy, et al.
The International Journal of Biochemistry & Cell Biology|March 22, 2012
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 functionArnaud Chevrollier, Julien Cassereau, Marc Ferré, et al.
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