Detalhe da pesquisa
1.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genet Med
; 23(5): 845-855, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495531
2.
Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair-deficient tumors.
Genet Med
; 17(6): 476-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341111
3.
Impaired visuomotor adaptation in adults with ADHD.
Exp Brain Res
; 233(4): 1145-53, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25567090
4.
Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.
Gynecol Oncol
; 134(2): 319-25, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24933100
5.
Access to subspecialty care for patients with mobility impairment: a survey.
Ann Intern Med
; 158(6): 441-6, 2013 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23552258
6.
Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.
ACG Case Rep J
; 11(4): e01312, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38590732
7.
Users' views on the use of a smartwatch app to collect daily symptom data in individuals with multiple long-term conditions (Multimorbidity): A qualitative study.
J Multimorb Comorb
; 14: 26335565231220202, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38223165
8.
Outcomes of screening endometrial cancer patients for Lynch syndrome by patient-administered checklist.
Gynecol Oncol
; 131(3): 619-23, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24141004
9.
A prospective study of risk factors associated with seroprevalence of SARS-CoV-2 antibodies in healthcare workers at a large UK teaching hospital.
J Infect
; 85(5): 557-564, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36058413
10.
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.
Mol Genet Metab Rep
; 29: 100825, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34900596
11.
Engagement with consumer smartwatches for tracking symptoms of individuals living with multiple long-term conditions (multimorbidity): A longitudinal observational study.
J Multimorb Comorb
; 11: 26335565211062791, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34869047
12.
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Mol Genet Metab Rep
; 21: 100537, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844627
13.
HCN1 and HCN2 in Rat DRG neurons: levels in nociceptors and non-nociceptors, NT3-dependence and influence of CFA-induced skin inflammation on HCN2 and NT3 expression.
PLoS One
; 7(12): e50442, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236374