Detalhe da pesquisa
1.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154813
2.
Cone-beam computed tomography assessment of maxillary anterior alveolar bone remodelling in extraction and non-extraction orthodontic cases using stable extra-alveolar reference.
Orthod Craniofac Res
; 26(2): 265-276, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104955
3.
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Pediatr Nephrol
; 34(7): 1175-1189, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987460
4.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437916
5.
Four drug-sensitive subunits are required for maximal effect of a voltage sensor-targeted KCNQ opener.
J Gen Physiol
; 150(10): 1432-1443, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166313
6.
One drug-sensitive subunit is sufficient for a near-maximal retigabine effect in KCNQ channels.
J Gen Physiol
; 150(10): 1421-1431, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166314
7.
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Neuromuscul Disord
; 27(9): 793-803, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28688748
8.
Atomic basis for therapeutic activation of neuronal potassium channels.
Nat Commun
; 6: 8116, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333338
9.
Congenital myopathies: Natural history of a large pediatric cohort.
Neurology
; 84(1): 28-35, 2015 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428687