Detalhe da pesquisa
1.
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Am J Med Genet A
; 191(2): 546-553, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317804
2.
Systemic Inflammation and Outcome in 2295 Patients with Stage I-III Colorectal Cancer from Scotland and Norway: First Results from the ScotScan Colorectal Cancer Group.
Ann Surg Oncol
; 27(8): 2784-2794, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248375
3.
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
J Neuromuscul Dis
; 11(1): 179-189, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38108361
4.
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Neuromuscul Disord
; 33(9): 98-105, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598009
5.
IgG4-Related Sclerosing Disease of the Temporal Bone: A Systematic Review.
Otol Neurotol
; 43(8): 856-863, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941671
6.
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Neuromuscul Disord
; 32(11-12): 893-902, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207221
7.
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
J Neuromuscul Dis
; 9(6): 803-808, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36057830
8.
A DM1 patient with CCG variant repeats: Reaching the diagnosis.
Neuromuscul Disord
; 31(3): 232-238, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33546847