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1 . Academic Journal
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
저자
by
Mario Cesare Nurchis
;
Gerardo Altamura
;
Maria Teresa Riccardi
;
Francesca Clementina Radio
;
Giovanni Chillemi
, et al.
소스
Archives of Public Health, Vol 81, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
저자
by
Roberta Zuntini
;
Chiara Cattani
;
Lucia Pedace
;
Evelina Miele
;
Stefano Giuseppe Caraffi
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
저자
by
Carlo Alberto Cesaroni
;
Marzia Pollazzon
;
Cecilia Mancini
;
Susanna Rizzi
;
Camilla Cappelletti
, 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
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
저자
by
Adam Jackson
;
Sheng-Jia Lin
;
Elizabeth A. Jones
;
Kate E. Chandler
;
David Orr
, et al.
소스
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
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7 . Academic Journal
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
저자
by
Emanuela Salzano
;
Marcello Niceta
;
Simone Pizzi
;
Francesca Clementina Radio
;
Martina Busè
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey
저자
by
Mario Cesare Nurchis
;
Gian Marco Raspolini
;
Aurora Heidar Alizadeh
;
Gerardo Altamura
;
Francesca Clementina Radio
, et al.
소스
Journal of Personalized Medicine, Vol 13, Iss 6, p 899 (2023)
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7 . Academic Journal
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
저자
by
Emanuele Coccia
;
Lara Valeri
;
Roberta Zuntini
;
Stefano Giuseppe Caraffi
;
Francesca Peluso
, et al.
소스
Genes, Vol 14, Iss 3, p 549 (2023)
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7 . Academic Journal
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
저자
by
Marco Ferilli
;
Andrea Ciolfi
;
Lucia Pedace
;
Marcello Niceta
;
Francesca Clementina Radio
, et al.
소스
Genes, Vol 13, Iss 11, p 2163 (2022)
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7 . Academic Journal
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
저자
by
Michael Smith
;
Elizabeth Alexander
;
Ruta Marcinkute
;
Dorica Dan
;
Myfanwy Rawson
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
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