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Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
Frontiers in genetics, 2023-09, Vol.14
2023
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Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype
Frontiers in genetics, 2022-07, Vol.13
2022
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Parents Between Family and Work: The Role of Psychological Needs Satisfaction
Journal of family and economic issues, 2023-06, Vol.45 (3), p.672-686
2023
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Investigating microbial indicators of anthropogenic marine pollution by 16S and 18S High-Throughput Sequencing (HTS) library analysis
FEMS microbiology letters, 2019-07, Vol.366 (14), p.1
2019
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Investigating microbial indicators of anthropogenic marine pollution by 16S and 18S High-Throughput Sequencing
FEMS microbiology letters, 2019-07, Vol.366 (14), p.1
2019
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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
Human genetics, 2019-02, Vol.138 (2), p.187-198
2019
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Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
Frontiers in genetics, 2023, Vol.14, p.1244983-1244983
2023
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Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype
Frontiers in genetics, 2022, Vol.13, p.924362-924362
2022
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Pharmaceutical suspensions of ursodeoxycholic acid for pediatric patients: in vitro and in vivo studies
Pharmaceutical development and technology, 2021-05, Vol.26 (5), p.599-609
2021
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Detector Response to D-D Neutrons and Stability Measurements with 4H Silicon Carbide Detectors
Materials, 2021-01, Vol.14 (3), p.568
2021
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Cardiovascular prevention in childhood: a consensus document of the Italian Society of Cardiology Working Group on Congenital Heart Disease and Cardiovascular Prevention in Paediatric Age
Journal of cardiovascular medicine (Hagerstown, Md.), 2023-08, Vol.24 (8), p.492
2023
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Emotional status and fear in patients scheduled for elective surgery during COVID-19 pandemic: a nationwide cross-sectional survey (COVID-SURGERY)
Journal of Anesthesia, Analgesia and Critical Care (Online), 2021-11, Vol.1 (1), p.17-17, Article 17
2021
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Impaired intrathyroidal iodine organification and iodine-induced hypothyroidism in euthyroid women with a previous episode of postpartum thyroiditis
The journal of clinical endocrinology and metabolism, 1991-11, Vol.73 (5), p.958-963
1991
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