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1.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34216551
2.
How tyrannical leadership relates to workplace bullying and turnover intention over time: The role of coworker support.
Scand J Psychol
; 65(3): 469-478, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38140777
3.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab
; 138(3): 107525, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36796138
4.
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Mol Genet Metab
; 134(3): 223-234, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34649782
5.
When workload predicts exposure to bullying behaviours in nurses: The protective role of social support and job recognition.
J Adv Nurs
; 77(7): 3093-3103, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33896030
6.
Workaholism, presenteeism, work-family conflicts and personal and work outcomes: Testing a moderated mediation model.
J Clin Nurs
; 30(19-20): 2842-2853, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33870550
7.
Predicting nurses' occupational commitment and turnover intention: The role of autonomous motivation and supervisor and coworker behaviours.
J Nurs Manag
; 29(8): 2611-2619, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34327750
8.
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
J Inherit Metab Dis
; 43(3): 549-557, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31710733
9.
Fatigue in new registered nurses: A 12-month cross-lagged analysis of its association with work motivation, engagement, sickness absence and turnover intention.
J Nurs Manag
; 28(3): 606-614, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31976593
10.
Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.
Curr Opin Hematol
; 26(1): 16-21, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30451720
11.
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Genet Med
; 21(12): 2686-2694, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31263214
12.
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 772-789, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30659246
13.
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13â¯Tâ¯>â¯G variant.
Mol Genet Metab
; 126(2): 106-116, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30655185
14.
Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
Mol Genet Metab
; 123(2): 85-91, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29050825
15.
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Mol Genet Metab
; 120(1-2): 96-100, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27692944
16.
Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.
Mol Genet Metab
; 121(2): 127-137, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28495044
17.
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Mol Genet Metab
; 120(3): 163-172, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28185884
18.
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
Am J Med Genet A
; 173(10): 2628-2634, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28763149
19.
PRKAG2 mutations presenting in infancy.
J Inherit Metab Dis
; 40(6): 823-830, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28801758
20.
Motivational pathways of occupational and organizational turnover intention among newly registered nurses in Canada.
Nurs Outlook
; 65(4): 444-454, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28641867