Detalhe da pesquisa
1.
Evaluation of treatment and outcome for patients with haemophilia A and haemophilia B on extended half-life (EHL) factor products: A 12-month data analysis.
Haemophilia
; 29(5): 1283-1290, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565529
2.
Haemophilia joint health score (HJHS) usage, patterns and outcome data in patients with haemophilia A and haemophilia B in Australia: A descriptive study using the Australian Bleeding Disorders Registry (ABDR).
Haemophilia
; 29(4): 1135-1141, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335559
3.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
4.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet
; 58(5): 314-325, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518176
5.
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Hum Mutat
; 42(6): 685-693, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783914
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
7.
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Mol Genet Metab
; 134(4): 301-308, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862134
8.
The Australian experience with switching to extended half-life factor VIII and IX concentrates: On behalf of the Australian Haemophilia Centre Directors' Organisation.
Haemophilia
; 26(3): 529-535, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243027
9.
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
J Med Genet
; 56(3): 123-130, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683676
10.
Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States.
Mol Genet Metab
; 127(2): 122-127, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31138493
11.
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Epilepsia
; 60(8): 1733-1742, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313283
12.
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.
J Inherit Metab Dis
; 41(6): 1267-1273, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30027425
13.
Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.
Am J Hematol
; 98(12): E376-E379, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732815
14.
A physician targeted intervention improves prescribing in chronic heart failure in general medical units.
BMC Health Serv Res
; 18(1): 206, 2018 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566753
15.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749475
16.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Mol Genet Metab
; 122(1-2): 18-32, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28863857
17.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
J Inherit Metab Dis
; 40(3): 403-414, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28303425
18.
Early-onset phenotype of bi-allelic GRN mutations.
Brain
; 144(2): e22, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351065
19.
Crossed Cerebellar Diaschisis in EEG Negative Epilepsia Partialis Continua.
Neuropediatrics
; 53(4): 299-300, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34674208
20.
Disparities in access to anti-vascular endothelial growth factor treatment for neovascular age-related macular degeneration.
Clin Exp Ophthalmol
; 45(2): 143-151, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449314