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1.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37133451
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38258669
3.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906502
4.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genet Med
; 23(1): 183-191, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32939031
5.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Hum Mutat
; 41(11): 1884-1891, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906196
6.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32719395
7.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573669
8.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Eur J Hum Genet
; 31(5): 521-525, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36446895
9.
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
J Neurol Sci
; 420: 117260, 2021 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33310205
10.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Eur J Hum Genet
; 27(12): 1821-1826, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31358953
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