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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.
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
3.
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
4.
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
5.
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
6.
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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