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1 . Academic Journal
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome
저자
by
Ester Capecchi
;
Roberta Villa
;
Alessandro Pini
;
Maria Iascone
;
Laura Messina
, et al.
소스
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-6 (2024)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
저자
by
Ilaria Bestetti
;
Milena Crippa
;
Alessandra Sironi
;
Matteo Bellini
;
Francesca Tumiatti
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
저자
by
Eleonora Bonaventura
;
Luisella Alberti
;
Simona Lucchi
;
Laura Cappelletti
;
Salvatore Fazzone
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
Open Access (DOAJ)
Scopus
Web of Science
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7 . Academic Journal
Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia
저자
by
Barbara Parma
;
Serena Motta
;
Erika S. Apuril Velgara
;
Angelo Selicorni
;
Lisa Licini
, et al.
소스
Journal of Pediatric and Neonatal Individualized Medicine, Vol 13, Iss 1, Pp e130114-e130114 (2024)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
저자
by
Roberto Previtali
;
Alessia Leidi
;
Martina Basso
;
Giana Izzo
;
Cecilia Stignani
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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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
Menkes disease complicated by concurrent ACY1 deficiency: A case report
저자
by
Alessia Mauri
;
Laura Assunta Saielli
;
Enrico Alfei
;
Maria Iascone
;
Daniela Marchetti
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies
저자
by
Philip Boone
;
Kamli Faour
;
Kiana Mohajeri
;
John Lemanski
;
Bimal Jana
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Full Text (Clinical Key)
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
저자
by
Eleonora Bonaventura
;
Luisella Alberti
;
Simona Lucchi
;
Laura Cappelletti
;
Salvatore Fazzone
, et al.
소스
Frontiers in Neurology, Vol 13 (2023)
Open Access (DOAJ)
Scopus
Web of Science
JCR 저널정보
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7 . Academic Journal
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
저자
by
Lot Snijders Blok
;
Jolijn Verseput
;
Dmitrijs Rots
;
Hanka Venselaar
;
A. Micheil Innes
, et al.
소스
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
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