Detalhe da pesquisa
1.
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
Hum Mol Genet
; 32(9): 1552-1564, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36611016
2.
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
J Med Genet
; 60(4): 352-358, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002240
3.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
4.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS Genet
; 12(4): e1005848, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120463
5.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet
; 23(11): 2888-900, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403048
6.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
J Med Genet
; 52(8): 541-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041762
7.
DLCO Biologic Quality-Control Findings From a Multi-Center Global Study.
Respir Care
; 68(9): 1245-1253, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37193597
8.
Evaluation of a community-based intervention for youth mental health in rural Ireland.
Ir J Psychol Med
; : 1-9, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124550
9.
Interleukin-17A induction of angiogenesis, cell migration, and cytoskeletal rearrangement.
Arthritis Rheum
; 63(11): 3263-73, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21834066
10.
Variations in FVC and FEV1 Biologic Quality Control Measures in a Global Multi-Center Clinical Trial.
Respir Care
; 67(6): 702-708, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815323
11.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet J Rare Dis
; 16(1): 136, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736665
12.
Relationship Between Respiratory Muscle Strength, Handgrip Strength, and Muscle Mass in Hospitalized Patients.
JPEN J Parenter Enteral Nutr
; 44(5): 831-836, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621088
13.
Differences in Respiratory Muscle Strength Measures in Well-Nourished and Malnourished Hospitalized Patients.
J Acad Nutr Diet
; 119(5): 831-839, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862483
14.
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
J Med Genet
; 44(2): 89-98, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16801345
15.
The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?
Neurotherapeutics
; 15(4): 849-862, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019308
16.
Demodex and rosacea revisited.
Clin Dermatol
; 35(2): 195-200, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28274359
17.
Airborne Particulate Concentrations During and After Pulmonary Function Testing.
Chest
; 159(4): 1570-1574, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144080
18.
Potocki-Lupski syndrome in conjunction with bilateral clubfoot.
J Pediatr Orthop B
; 24(4): 373-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25768679
19.
Abacavir-reactive memory T cells are present in drug naïve individuals.
PLoS One
; 10(2): e0117160, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25674793
20.
The role of interleukin-17 in immune-mediated inflammatory myopathies and possible therapeutic implications.
Neuromuscul Disord
; 24(11): 943-52, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25052503