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1 . Academic Journal
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters
저자
by
Eva Piano Mortari
;
Federica Pulvirenti
;
Valentina Marcellini
;
Sara Terreri
;
Ane Fernandez Salinas
, et al.
소스
Frontiers in Immunology, Vol 14 (2023)
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7 . Academic Journal
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
저자
by
Federica Pulvirenti
;
Bianca Laura Cinicola
;
Simona Ferrari
;
Daniele Guadagnolo
;
Eleonora Sculco
, et al.
소스
Frontiers in Immunology, Vol 14 (2023)
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7 . Academic Journal
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
저자
by
Daniele Guadagnolo
;
Gioia Mastromoro
;
Enrica Marchionni
;
Aldo Germani
;
Fabio Libi
, et al.
소스
Biomedicines, Vol 11, Iss 7, p 2062 (2023)
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7 . Academic Journal
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series
저자
by
Gioia Mastromoro
;
Daniele Guadagnolo
;
Nader Khaleghi Hashemian
;
Laura Bernardini
;
Antonella Giancotti
, et al.
소스
Diagnostics, Vol 13, Iss 1, p 48 (2022)
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7 . Academic Journal
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings
저자
by
Daniele Guadagnolo
;
Maria Piane
;
Maria Rosaria Torrisi
;
Antonio Pizzuti
;
Simona Petrucci
.
소스
Frontiers in Neurology, Vol 12 (2021)
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7 . Academic Journal
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer
저자
by
Aldo Germani
;
Daniele Guadagnolo
;
Valentina Salvati
;
Caterina Micolonghi
;
Rita Mancini
, et al.
소스
Diagnostics, Vol 12, Iss 7, p 1520 (2022)
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7 . Academic Journal
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis
저자
by
Gioia Mastromoro
;
Nader Khaleghi Hashemian
;
Daniele Guadagnolo
;
Maria Grazia Giuffrida
;
Barbara Torres
, et al.
소스
Diagnostics, Vol 12, Iss 1328, p 1328 (2022)
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7 . Academic Journal
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis
저자
by
Gioia Mastromoro
;
Daniele Guadagnolo
;
Nader Khaleghi Hashemian
;
Enrica Marchionni
;
Alice Traversa
, et al.
소스
Diagnostics, Vol 12, Iss 3, p 575 (2022)
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7 . Academic Journal
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation
저자
by
Alice Traversa
;
Silvia Bernardo
;
Alessandro Paiardini
;
Agnese Giovannetti
;
Enrica Marchionni
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
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7 . Academic Journal
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review
저자
by
Daniele Guadagnolo
;
Gioia Mastromoro
;
Francesca Di Palma
;
Antonio Pizzuti
;
Enrica Marchionni
.
소스
Diagnostics, Vol 11, Iss 224, p 224 (2021)
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