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Stem Cells (Dayton, Ohio)|January 5, 2021
Molecular requirements for human lymphopoiesis as defined by inborn errors of immunityErika Della Mina, Antoine Guérin, Stuart G TangyeJournal of Medical Genetics|June 10, 2011
XX males SRY negative: a confirmed cause of infertilityAnnalisa Vetro, Roberto Ciccone, Roberto Giorda, et al.Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology|September 11, 2012
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1)Esmeralda Matute, Olga Inozemtseva, Adriana Aguilar-Lemarroy, et al.European Journal of Medical Genetics|September 4, 2013
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 geneBaran Bayindir, Elena Piazza, Erika Della Mina, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Common structural features characterize interstitial intrachromosomal Xp and 18q triplicationsRoberto Giorda, Silvana Beri, M Clara Bonaglia, et al.Case Reports in Genetics|August 29, 2013
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short armMariangela Cisternino, Erika Della Mina, Laura Losa, et al.Human Genetics|July 13, 2010
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjectsNicoletta Resta, Roberto Giorda, Rosanna Bagnulo, et al.European Journal of Medical Genetics|February 14, 2013
MEF2C deletions and mutations versus duplications: a clinical comparisonFrancesca Novara, Ambra Rizzo, Gloria Bedini, et al.Parkinsonism & Related Disorders|October 17, 2009
alpha-Synuclein multiplication analysis in Italian familial Parkinson diseaseFrancesca Sironi, Luca Trotta, Angelo Antonini, et al.The Journal of Molecular Diagnostics : JMD|May 15, 2022
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort StudyWilliam Kermode, Dianne De Santis, Linh Truong, et al.Pageof 3