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1 . Academic Journal
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.
저자
by
Bruno, Lucia Pia
;
Fava, Francesca
;
Baldassarri, Margherita
;
Salvati, Virginia M.
;
Scandurra, Valeria
, et al.
소스
In:
Journal of Autism & Developmental Disorders
; Springer Nature (,
) Oct2022; v.52 n.10, 4605-4607. (3p)
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7 . Academic Journal
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
저자
by
Bosch, Elisabeth
;
Popp, Bernt
;
Güse, Esther
;
Skinner, Cindy
;
van der Sluijs, Pleuntje J.
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
Full Text (ScienceDirect)
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7 . Academic Journal
Patient preferences in genetic newborn screening for rare diseases: study protocol
저자
by
Antonio Novelli
;
Alessandra Ferlini
;
Ferdinand Knieling
;
Brett Hauber
;
Jorien Veldwijk
, et al.
소스
BMJ Open, Vol 14, Iss 4 (2024)
Open Access (DOAJ)
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7 . Academic Journal
The impact of PM2.5, PM10 and NO2 on Covid-19 severity in a sample of patients with multiple sclerosis: A case-control study
저자
by
Gianmarco, Abbadessa
;
Umberto, Aguglia
;
Lia, Allegorico
;
Maria, Allegri Rossi Beatrice
;
Anastasia, Alteno
, et al.
소스
In
Multiple Sclerosis and Related Disorders
December 2022 68
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7 . Academic Journal
Remdesivir and three other drugs for hospitalised patients with COVID-19: final results of the WHO Solidarity randomised trial and updated meta-analyses
저자
by
Pan, Hongchao
;
Peto, Richard
;
Henao Restrepo, Ana Maria
;
Preziosi, Marie-Pierre
;
Sathiyamoorthy, Vasee
, et al.
소스
In
The Lancet
21-27 May 2022 399(10339):1941-1953
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7 . Academic Journal
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
저자
by
Aerden, Mio
;
Denommé-Pichon, Anne-Sophie
;
Bonneau, Dominique
;
Bruel, Ange-Line
;
Delanne, Julian
, et al.
소스
European Journal of Human Genetics
. 31(4):461-468
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7 . Academic Journal
Early Predictors of 9‐Year Disability in Pediatric Multiple Sclerosis.
저자
by
De Meo, Ermelinda
;
Bonacchi, Raffaello
;
Moiola, Lucia
;
Colombo, Bruno
;
Sangalli, Francesca
, et al.
소스
Annals of Neurology
(ANN NEUROL), May2021; 89(5): 1011-1022. (12p)
Full Text (Wiley)
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7 . Academic Journal
Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia
저자
by
Rispoli, Vincenzo
;
Malara, Alba
;
Spadea, Fausto
;
Di Cello, Serena
;
Ceravolo, Francesco
, et al.
소스
In
Journal of the American Medical Directors Association
April 2020 21(4):486-492
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7 . Academic Journal
Hemorrhage, Disseminated Intravascular Coagulopathy, and Thrombosis Complications Among Critically Ill Patients with COVID-19: An International COVID-19 Critical Care Consortium Study
저자
by
Fanning, Jonathon P.
;
Weaver, Natasha
;
Fanning, Robert B.
;
Griffee, Matthew J.
;
Cho, Sung-Min
, et al.
소스
Critical Care Medicine
. Feb 28, 2023
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7 . Academic Journal
Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network
저자
by
Gaggiano, Carla
;
Gupta, Vishali
;
Agrawal, Rupesh
;
De Smet, Marc D.
;
Frediani, Bruno
, et al.
소스
Ophthalmology and Therapy
. 13(1):127-147
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