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1 . Academic Journal
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
저자
by
Enrica Marchionni
;
Maria Rosaria D'Apice
;
Viviana Lupo
;
Giovanna Lattanzi
;
Elisabetta Mattioli
, et al.
소스
Bone Reports, Vol 19, Iss , Pp 101728- (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
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
저자
by
Francesca Di Lorenzo
;
Enrica Marchionni
;
Valentina Ferradini
;
Andrea Latini
;
Laura Pezzoli
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2490 (2023)
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7 . Academic Journal
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis
저자
by
Marcella Nebbioso
;
Federica Franzone
;
Alessandro Lambiase
;
Maurizio La Cava
;
Fabiana Mallone
, et al.
소스
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
저자
by
Enrica Marchionni
;
Aurélie Méneret
;
Boris Keren
;
Judith Melki
;
Christian Denier
, et al.
소스
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
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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
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance
저자
by
Alice Traversa
;
Enrica Marchionni
;
Agnese Giovannetti
;
Maria L. Genovesi
;
Noemi Panzironi
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
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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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7 . Academic Journal
TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women
저자
by
Enrica Marchionni
;
Maria Grazia Porpora
;
Francesca Megiorni
;
Ilaria Piacenti
;
Agnese Giovannetti
, et al.
소스
Diagnostics, Vol 10, Iss 5, p 255 (2020)
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