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1 . Academic Journal
Decurarization After Thoracic Anesthesia using sugammadex compared to neostigmine (DATA trial): a multicenter randomized double-blinded controlled trial.
저자
by
Piccioni, Federico
;
Rosboch, Giulio L.
;
Coccia, Cecilia
;
Donati, Ilaria
;
Proto, Paolo
, et al.
소스
Journal of Anesthesia, Analgesia & Critical Care; 2/8/2024, Vol. 4 Issue 1, p1-11, 11p
Open Access (BioMed Central)
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7 . Periodical
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
저자
by
Scott, Alexandra
;
Di Giosaffatte, Niccolò
;
Pinna, Valentina
;
Daniele, Paola
;
Corno, Sara
, et al.
소스
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1116-1124, 9p
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7 . Academic Journal
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
저자
by
Magini, Pamela
;
Scarano, Emanuela
;
Donati, Ilaria
;
Sensi, Alberto
;
Mazzanti, Laura
, et al.
소스
Gene
. Jul2019, Vol. 706, p162-171. 10p.
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7 . Academic Journal
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
저자
by
Ferri, Lorenzo
;
Malesci, Duccio
;
Fioravanti, Antonella
;
Bagordo, Gaia
;
Filippini, Armando
, et al.
소스
Clinica Chimica Acta
. Jun2018, Vol. 481, p25-33. 9p.
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7 . Academic Journal
Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.
저자
by
Mignani, Renzo
;
Moschella, Mariarita
;
Cenacchi, Giovanna
;
Donati, Ilaria
;
Flachi, Marta
, et al.
소스
Molecular Genetics & Genomic Medicine
. Jul2017, Vol. 5 Issue 4, p438-442. 5p.
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7 . Academic Journal
Quality of life and pain control following laparoscopic retroperitoneal lymph node dissection in early-stage nonseminoma
저자
by
Nicolai, Nicola
;
Bianchi, Elisabetta
;
Donati, Ilaria
;
LʼAcqua, Camilla
;
Brunelli, Cinzia
, et al.
소스
Tumori Journal
. Nov 14, 2015 101(6):650-656
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7 . Academic Journal
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
저자
by
Leonardi, Emanuela
;
Bellini, Mariagrazia
;
Aspromonte, Maria C.
;
Polli, Roberta
;
Mercante, Anna
, et al.
소스
GENES
; MAR 2020, 11 3, p344 16p.
Scopus
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7 . Academic Journal
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations
저자
by
Sensi, Alberto
;
Ceruti, Stefano
;
Trevisi, Patrizia
;
Gualandi, Francesca
;
Busi, Micol
, et al.
소스
American Journal Of Medical Genetics - A
. May 01, 2011 155(5):1096-1101
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7 .
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Next Generation Sequencing and Computational Analysis
저자
by
Leonardi, Emanuela
;
Mariagrazia Bellini
;
Aspromonte, Maria Cristina
;
Necci, Marco
;
Chiricosta, Luigi
, et al.
소스
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7 .
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
저자
by
Parrini, Elena
;
Marini, Carla
;
Mei, Davide
;
Galuppi, Anna
;
Cellini, Elena
, et al.
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