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Frontiers in Neurology|March 12, 2019
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle MetabolismEmanuele Panza, Diego Martinelli, Pamela Magini, et al.
Journal of Assisted Reproduction and Genetics|September 11, 2024
Familial DMRT1-related non-obstructive azoospermia: a case reportGiulia Severi, Enrico Ambrosini, Luca Caramanna, et al.
Frontiers in Genetics|March 21, 2024
Long read sequencing on its way to the routine diagnostics of genetic diseasesGiulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Gynecologic Oncology|May 20, 2011
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancersFlora Guerra, Ivana Kurelac, Pamela Magini, et al.
Blood|June 26, 2009
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutationClaudio Graziano, Simona Carone, Emanuele Panza, et al.
Frontiers in Pediatrics|September 7, 2021
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of LiteratureDaniele Zama, Edoardo Muratore, Arianna Giannetti, et al.
Journal of Medical Genetics|September 20, 2011
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletionLaura Maria Pradella, Roberta Zuntini, Pamela Magini, et al.
American Journal of Medical Genetics. Part A|August 8, 2013
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangementsMaria Carla Pittalis, Angela Mattarozzi, Cristina Menozzi, et al.
Human Heredity|August 19, 2011
EX-HOM (EXome HOMozygosity): a proof of principleTommaso Pippucci, Matteo Benelli, Alberto Magi, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutationsPamela Magini, Matteo Della Monica, Maria Luisa Giovannucci Uzielli, et al.
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