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1 . Academic Journal
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
저자
by
Dario Cocciadiferro
;
Tommaso Mazza
;
Davide Vecchio
;
Tommaso Biagini
;
Francesco Petrizzelli
, et al.
소스
Frontiers in Genetics, Vol 14 (2024)
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7 . Academic Journal
Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly
저자
by
Angela Galeotti
;
Giovanni Carlo De Vincentiis
;
Emanuela Sitzia
;
Giuseppe Marzo
;
Wanda Maldonato
, et al.
소스
Children, Vol 11, Iss 5, p 554 (2024)
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7 . Academic Journal
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care
저자
by
Anwar Baban
;
Giovanni Parlapiano
;
Marianna Cicenia
;
Michela Armando
;
Alessio Franceschini
, et al.
소스
Journal of Cardiovascular Development and Disease, Vol 11, Iss 4, p 114 (2024)
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7 . Academic Journal
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia
저자
by
Filippo M. Panfili
;
Andrea Pietrobattista
;
Davide Vecchio
;
Michaela V. Gonfiantini
;
Andrea Bartuli
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
저자
by
Giulio Calcagni
;
Federica Ferrigno
;
Alessio Franceschini
;
Maria Lisa Dentici
;
Rossella Capolino
, et al.
소스
Diagnostics, Vol 14, Iss 6, p 594 (2024)
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7 . Academic Journal
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
저자
by
Giulia Fasano
;
Valentina Muto
;
Francesca Clementina Radio
;
Martina Venditti
;
Niloufar Mosaddeghzadeh
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)
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7 . Academic Journal
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
저자
by
Andrea Gazzin
;
Chiara Leoni
;
Germana Viscogliosi
;
Federica Borgini
;
Lucrezia Perri
, et al.
소스
Genes, Vol 14, Iss 12, p 2134 (2023)
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7 . 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
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome
저자
by
Roberta Onesimo
;
Elisabetta Sforza
;
Valentina Trevisan
;
Chiara Leoni
;
Valentina Giorgio
, et al.
소스
Genes, Vol 14, Iss 10, p 1843 (2023)
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7 . Academic Journal
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
저자
by
Marta Gazzotti
;
Manuela Casula
;
Stefano Bertolini
;
Maria Elena Capra
;
Elena Olmastroni
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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