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Genes|November 11, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical PicturesBeatrice Spedicati, Anna Morgan, Giulia Pianigiani, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|July 6, 2023
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literatureIlaria Fantasia, Flavio Faletra, Rossana Bussani, et al.
Molecular Genetics & Genomic Medicine|March 30, 2019
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?Roberta Bottega, Luisa M R Napolitano, Anna Carbone, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|September 30, 2024
Genetic variants in patients with recurrent pericarditisMassimo Imazio, Flavio Faletra, Jessica Zucco, et al.
BMC Medical Genomics|March 26, 2021
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosisFabio Sirchia, Ilaria Fantasia, Agnese Feresin, et al.
Frontiers in Pediatrics|September 6, 2021
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathiesErica Valencic, Prisca Da Lozzo, Gianluca Tornese, et al.
American Journal of Medical Genetics. Part A|December 6, 2024
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor SyndromeAgnese Feresin, Beatrice Spedicati, Stefania Zampieri, et al.
Frontiers in Oncology|November 18, 2024
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma-affected patients: a pilot studyChiara Dal Secco, Alessandro Tel, Lorenzo Allegri, et al.
Journal of Human Genetics|March 8, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseasesJessica Zucco, Federica Baldan, Lorenzo Allegri, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|July 17, 2021
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomesIlaria Fantasia, Daniela Dibello, Valentina Di Carlo, et al.
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