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1 . Academic Journal
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
저자
by
Marina Macchiaiolo
;
Filippo M. Panfili
;
Davide Vecchio
;
Michaela V. Gonfiantini
;
Fabiana Cortellessa
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
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7 . Academic Journal
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
저자
by
Cesare Rossi
;
Sherin Ramadan
;
Cecilia Evangelisti
;
Simona Ferrari
;
Maria Accadia
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome
저자
by
Paolo Alfieri
;
Marina Macchiaiolo
;
Martina Collotta
;
Federica Alice Maria Montanaro
;
Cristina Caciolo
, et al.
소스
Journal of Clinical Medicine, Vol 11, Iss 4078, p 4078 (2022)
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7 . Academic Journal
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
저자
by
Manuela Capozza
;
Iolanda Chinellato
;
Vito Guarnieri
;
Natascia Di lorgi
;
Maria Accadia
, et al.
소스
BMC Pediatrics, Vol 18, Iss 1, Pp 1-7 (2018)
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7 . Academic Journal
Epicardial Adipose Tissue and IL-13 Response to Myocardial Injury Drives Left Ventricular Remodeling After ST Elevation Myocardial Infarction
저자
by
Valentina Parisi
;
Serena Cabaro
;
Vittoria D’Esposito
;
Laura Petraglia
;
Maddalena Conte
, et al.
소스
Frontiers in Physiology, Vol 11 (2020)
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7 . Academic Journal
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
저자
by
Ester Di Muro
;
Pietro Palumbo
;
Mario Benvenuto
;
Maria Accadia
;
Marilena Carmela Di Giacomo
, et al.
소스
Genes, Vol 12, Iss 8, p 1116 (2021)
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7 . Academic Journal
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription
저자
by
Giuseppe Di Stolfo
;
Maria Accadia
;
Sandra Mastroianno
;
Maria P. Leone
;
Orazio Palumbo
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
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7 . Academic Journal
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies
저자
by
Pietro Palumbo
;
Ester Di Muro
;
Maria Accadia
;
Mario Benvenuto
;
Marilena Carmela Di Giacomo
, et al.
소스
Genes, Vol 12, Iss 229, p 229 (2021)
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7 . Academic Journal
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
저자
by
Flavia A M Maggiolini
;
Stuart Cantsilieris
;
Pietro D'Addabbo
;
Michele Manganelli
;
Bradley P Coe
, et al.
소스
PLoS Genetics, Vol 15, Iss 3, p e1008075 (2019)
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7 . Academic Journal
Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
저자
by
Manuela Capozza
;
Iolanda Chinellato
;
Vito Guarnieri
;
Natascia Di Iorgi
;
Maria Accadia
, et al.
소스
BMC Pediatrics, Vol 19, Iss 1, Pp 1-1 (2019)
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