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1 . Academic Journal
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro
저자
by
Ghirigato, Elena
;
Terenzi, Francesca
;
Baglivo, Mirko
;
Zanetti, Nadia
;
Baldo, Francesco
, et al.
소스
In
Neuromuscular Disorders
December 2023 33(12):972-977
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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
Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study.
저자
by
Guffon, Nathalie
;
Konstantopoulou, Vassiliki
;
Hennermann, Julia B.
;
Muschol, Nicole
;
Bruno, Irene
, et al.
소스
Journal of Inherited Metabolic Disease; Jul2023, Vol. 46 Issue 4, p705-719, 15p
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7 . Academic Journal
Measuring Knowledge of Healthcare Providers on Pediatric Palliative Care with an Online Questionnaire Based on the National Core Curriculum in Italy.
저자
by
Zanello, Elisa
;
Vecchi, Roberta
;
Zamagni, Giulia
;
Biagi, Maria Celeste
;
Bruno, Irene
, et al.
소스
Healthcare (2227-9032); Jul2023, Vol. 11 Issue 13, p1971, 12p
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7 . Academic Journal
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
저자
by
Coratti, Giorgia
;
Ricci, Martina
;
Capasso, Anna
;
D'amico, Adele
;
Sansone, Valeria
, et al.
소스
Neurology; 3/14/2023, Vol. 100 Issue 11, p522-528, 7p
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7 . Academic Journal
Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib.
저자
by
Caiffa, Thomas
;
Tessitore, Antimo
;
Magnolato, Andrea
;
Petz, Matilde
;
Bobbo, Marco
, et al.
소스
Pediatric Drugs
. Mar2023, Vol. 25 Issue 2, p217-224. 8p.
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7 . Academic Journal
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
저자
by
Wiel, Luisa Cortellazzo
;
Bruno, Irene
;
Barbi, Egidio
;
Sirchia, Fabio
.
소스
Italian Journal of Pediatrics
. 5/12/2022, Vol. 48 Issue 1, p1-10. 10p.
Open Access (BioMed Central)
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6 . Academic Journal
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
저자
by
Cappuccio, Gerarda
;
Brunetti‐Pierri, Nicola
;
Clift, Paul
;
Learn, Christopher
;
Dykes, John C.
, et al.
소스
American Journal of Medical Genetics. Part A; May2022, Vol. 188 Issue 5, p1384-1395, 12p
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7 . Academic Journal
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
저자
by
von der Lippe, Charlotte
;
Tveten, Kristian
;
Prescott, Trine E.
;
Holla, Øystein L.
;
Busk, Øyvind L.
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p272-282, 11p
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7 . Academic Journal
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report
저자
by
Da Lozzo, Prisca
;
Magnolato, Andrea
;
Del Rizzo, Irene
;
Sirchia, Fabio
;
Bruno, Irene
, et al.
소스
In
Journal of Adolescent Health
January 2019 64(1):137-138
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