Risultati della ricerca - Sheila A Simpson
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Genetic professionals' reports of nondisclosure of genetic risk information within families di Angus Clarke, Martin Richards, L Kerzin-Storrar, Jane Halliday, Mary Young, Sheila A Simpson, Katie Featherstone, Karen Forrest, Anneke Lucassen, Patrick J. Morrison, Oliver Quarrell, Helen Stewart
Pubblicazione 2005Artigo -
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Allelic and locus heterogeneity in inherited venous malformations di Jennifer T. Calvert, Travis J. Riney, Christopher D. Kontos, H. Eugene, Víctor G. Prieto, Christopher R. Shea, Jonathan Berg, N. C. Nevin, Sheila A. Simpson, Krystyna A. Pasyk, Marcy C. Speer, Kevin G. Peters, Douglas A. Marchuk
Pubblicazione 1999Artigo -
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export di Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João Ricardo Mendes de Oliveira, Renee Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ãngel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L. Fogel, Cyril Goizet, Joanna C. Jen, Suppachok Kirdlarp, Anthony E. Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry L. Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K. Unni, Olivier Vanakker, Marja W. Wessels, Suppachok Wetchaphanphesat, Michele Yang, François Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H. Geschwind, Jean‐Luc Battini, Giovanni Coppola
Pubblicazione 2015Artigo -
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification di Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Henry L. Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola
Pubblicazione 2013Artigo
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Soggetti correlati
Biology
Genetics
Medicine
Internal medicine
Disease
Gene
Psychology
Genetic counseling
Genetic testing
Missense mutation
Mutation
Pathology
Phenotype
Allele
Alternative medicine
Andrology
Artificial insemination
Calcification
Carrier testing
Clinical endpoint
Clinical psychology
Clinical research
Clinical trial
Demography
Distress
Family medicine
Fetus
Genetic heterogeneity
Growth factor
Gynecology