Browsing by Author Linglart, Agnès

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Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)
14-Mar-2015Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical careEggermann, Thomas; Netchine, Irène; Temple, I. Karen; Tümer, Zeynep; Monk, Dave Nicholas; Mackay, Deborah J. G.; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Maher, Eamonn R.
26-Jan-2016Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defectsRochtus, Anne; Martín Trujillo, Alex; Izzi, Benedetta; Elli, Francesca; Garin, Intza; Linglart, Agnès; Mantovani, Giovanna; Perez de Nanclares, Guiomar; Thiele, Suzanne; Decallonne, Brigitte; Van Geet, Chris; Monk, Dave Nicholas; Freson, Kathleen
14-Nov-2015Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociEggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R.; Temple, I. Karen; Tümer, Zeynep; Monk, Dave Nicholas; Mackay, Deborah J. G.; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène
Feb-2013Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcificationHsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García Estevez, D; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; Oliveira, João R. M. de; Sobrido, María Jesús; Geschwind, Daniel H.; Coppola, Giovanni