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Journal of Medical Genetics|June 22, 2011
Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27Claudia B Volpato, Alessandro De Grandi, Martin Gögele, et al.
Stem Cell Research|February 21, 2022
Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming methodValentina Gilmozzi, Giovanna Gentile, Diana A Riekschnitz, et al.
Stem Cell Research|September 17, 2018
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50Benedetta Ermon, Claudia B Volpato, Giada Cattelan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 28, 2016
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2Karen Grütz, Claudia B Volpato, Aloysius Domingo, et al.
Journal of Molecular Neuroscience : MN|July 1, 2010
Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's diseaseMaurizio F Facheris, Andrew A Hicks, Cosetta Minelli, et al.
Disease Models & Mechanisms|May 31, 2020
Silencing of CCR4-NOT complex subunits affects heart structure and functionLisa Elmén, Claudia B Volpato, Anaïs Kervadec, et al.
Seizure|March 1, 2019
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephalyFrancisco S Domingues, Eva König, Christine Schwienbacher, et al.
BMC Medical Genetics|June 7, 2007
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectivesCristian Pattaro, Fabio Marroni, Alice Riegler, et al.
American Journal of Human Genetics|June 19, 2012
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery diseaseWeihong Tang, Christine Schwienbacher, Lorna M Lopez, et al.
Plos Genetics|February 15, 2013
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid functionEleonora Porcu, Marco Medici, Giorgio Pistis, et al.
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