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.
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
4.
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
5.
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
6.
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
7.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113002
8.
Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy.
Epilepsy Behav
; 121(Pt A): 108022, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34020203
9.
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
Int J Mol Sci
; 22(10)2021 May 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34070208
10.
The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery.
J Clin Immunol
; 40(5): 763-766, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32483663
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.
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
14.
Impact of the 2013 American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 (HER2) testing of invasive breast carcinoma: a focus on tumours assessed as 'equivocal' for HER2 gene amplification by fluorescence in-situ hybridization.
Histopathology
; 67(6): 880-7, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25913507
15.
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
16.
Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency.
J Clin Immunol
; 38(2): 159-162, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29350338
17.
"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
18.
Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.
PEC Innov
; 1: 100014, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37364015
19.
Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy.
Eur J Paediatr Neurol
; 37: 129-138, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35240556
20.
Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol.
BMJ Open
; 12(10): e063249, 2022 10 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36288836