Detalles de la búsqueda
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29474920
2.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33159883
3.
Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme.
J Paediatr Child Health
; 59(2): 307-318, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36537724
4.
Understanding the ongoing learning needs of Australian metropolitan, rural and remote paediatricians: Evaluation of a neurology outreach programme.
J Paediatr Child Health
; 59(1): 134-143, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36354053
5.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827498
6.
Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope.
J Paediatr Child Health
; 58(10): 1726-1728, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36062939
7.
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.
J Paediatr Child Health
; 58(10): 1718-1721, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36069374
8.
Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty.
J Paediatr Child Health
; 58(10): 1722-1725, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36069627
9.
Evaluation of an educational video providing key messages for doctors to counsel families following a first afebrile seizure.
J Paediatr Child Health
; 57(2): 198-203, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32924233
10.
The information needs of parents of children with early-onset epilepsy: A systematic review.
Epilepsy Behav
; 112: 107382, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32854014
11.
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Hum Mol Genet
; 25(14): 3042-3054, 2016 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27270415
12.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30929740
13.
Evaluation of an E-learning resource on approach to the first unprovoked seizure.
J Paediatr Child Health
; 52(9): 896-900, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27650145
14.
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Mol Genet Metab
; 116(3): 178-86, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26318253
15.
Exploring carer perceptions of training in out-of-hospital use of buccal midazolam for emergency management of seizures (2008-2012).
J Paediatr Child Health
; 51(7): 704-7, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25594133
16.
'Beyond Milestones': a randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development.
J Paediatr Child Health
; 50(5): 393-8, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24373114
17.
Psychological wellbeing among parents of a child living with a serious chronic illness: A cross-sectional survey study.
J Child Health Care
; : 13674935241238485, 2024 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38551845
18.
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Seizure
; 115: 1-13, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38160512
19.
Severe hemorrhagic meningoencephalitis due to Angiostrongylus cantonensis among young children in Sydney, Australia.
Clin Infect Dis
; 57(8): 1158-61, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23843445
20.
"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.
Eur J Paediatr Neurol
; 47: 94-104, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37832466