Detalhe da pesquisa
1.
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
Hum Mol Genet
; 33(2): 103-109, 2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721535
2.
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
3.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Am J Med Genet A
; 188(12): 3432-3447, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36367278
4.
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.
J Paediatr Child Health
; 58(5): 758-761, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348259
5.
Emerging therapies for Achondroplasia: changing the rules of the game.
Expert Opin Emerg Drugs
; 26(4): 425-431, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758681
6.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genet Med
; 22(12): 1986-1993, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773771
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
8.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543227
9.
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.
J Clin Immunol
; 38(1): 1-3, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127627