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1 . Academic Journal
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation
저자
by
Martina Girardelli
;
Erica Valencic
;
Valentina Moressa
;
Roberta Margagliotta
;
Alessandra Tesser
, et al.
소스
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Impact of Methylmercury and Other Heavy Metals Exposure on Neurocognitive Function in Children Aged 7 Years: Study Protocol of the Follow-up
저자
by
Liza Vecchi Brumatti
;
Valentina Rosolen
;
Marika Mariuz
;
Elisa Piscianz
;
Erica Valencic
, et al.
소스
Journal of Epidemiology, Vol 31, Iss 2, Pp 157-163 (2021)
Open Access (JSTAGE)
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Web of Science
Scopus
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7 . Academic Journal
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
저자
by
Roberta Bottega
;
Antonio Marzollo
;
Maddalena Marinoni
;
Emmanouil Athanasakis
;
Ilaria Persico
, et al.
소스
Haematologica, Vol 107, Iss 3 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.
저자
by
Mariateresa Di Stazio
;
Nicola Foschi
;
Emmanouil Athanasakis
;
Paolo Gasparini
;
Adamo Pio d'Adamo
.
소스
PLoS ONE, Vol 16, Iss 3, p e0247603 (2021)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
저자
by
Luciana Musante
;
Paola Costa
;
Caterina Zanus
;
Flavio Faletra
;
Flora M. Murru
, et al.
소스
Genes, Vol 13, Iss 3, p 500 (2022)
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7 . Academic Journal
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
저자
by
Danilo Licastro
;
Margherita Mutarelli
;
Ivana Peluso
;
Kornelia Neveling
;
Nienke Wieskamp
, et al.
소스
PLoS ONE, Vol 7, Iss 8, p e43799 (2012)
Open Access (DOAJ)
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7 .
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
저자
by
Fabio Corsolini
;
Maria Gabelli
;
Daniela Simoncini
;
Giuseppe Robustelli
;
Flavio Faletra
, et al.
소스
Haematologica
. 107:750-754
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy with Normal Gamma-glutamyl Transferase Phenotype
저자
by
Lorenza Matarazzo
;
Anna Monica Bianco
;
Emmanouil Athanasakis
;
Marco Serveres
;
Paola Francalanci
, et al.
소스
Open Access (OpenAIRE)
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7 .
Could the MED13 mutations manifest as a Kabuki-like syndrome?
저자
by
Egidio Barbi
;
Flavio Faletra
;
Anna Monica Bianco
;
Irene Bruno
;
Adamo Pio D'Adamo
, et al.
소스
요약보기
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7 .
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation
저자
by
Valentina Moressa
;
Serena Pastore
;
Ottavia Spadola
;
Roberta Margagliotta
;
Alessandra Tesser
, et al.
소스
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)
Pediatric Rheumatology Online Journal
Open Access (OpenAIRE)
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