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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

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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ENDOSYMBIONTS OF ENTOMOPATHOGENIC NEMATODES FROM SOUTH ITALY: A PHENOTYPIC STUDY

Redia (Firenze), 2018-01, p.183-188

2018

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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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Dual therapy with peg-interferon and ribavirin in thalassemia major patients with chronic HCV infection: Is there still an indication?

Digestive and liver disease, 2016-06, Vol.48 (6), p.650-655

2016

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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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Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

Parents Between Family and Work: The Role of Psychological Needs Satisfaction

Investigating microbial indicators of anthropogenic marine pollution by 16S and 18S High-Throughput Sequencing

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

ENDOSYMBIONTS OF ENTOMOPATHOGENIC NEMATODES FROM SOUTH ITALY: A PHENOTYPIC STUDY

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype

Pharmaceutical suspensions of ursodeoxycholic acid for pediatric patients: in vitro and in vivo studies

Detector Response to D-D Neutrons and Stability Measurements with 4H Silicon Carbide Detectors

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

Dual therapy with peg-interferon and ribavirin in thalassemia major patients with chronic HCV infection: Is there still an indication?

Emotional status and fear in patients scheduled for elective surgery during COVID-19 pandemic: a nationwide cross-sectional survey (COVID-SURGERY)

Impaired intrathyroidal iodine organification and iodine-induced hypothyroidism in euthyroid women with a previous episode of postpartum thyroiditis

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