Detalhe da pesquisa
1.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117209
2.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
3.
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Hum Mol Genet
; 29(15): 2568-2578, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32667670
4.
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
Pediatr Nephrol
; 37(10): 2369-2374, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211794
5.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Intern Med J
; 52(1): 110-120, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505344
6.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Am J Hum Genet
; 103(1): 125-130, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909962
7.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A
; 185(8): 2445-2454, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34032352
8.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634872
9.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
10.
Triple P for Parents of Children with Phenylketonuria: A Nonrandomized Trial.
J Pediatr Psychol
; 46(2): 208-218, 2021 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296470
11.
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Genet Med
; 22(7): 1254-1261, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313153
12.
Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators.
Child Care Health Dev
; 46(1): 56-65, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782540
13.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
14.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
15.
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1664-1666, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658335
16.
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.
J Inherit Metab Dis
; 42(1): 29-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740740
17.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
; 42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740725
18.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
19.
Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.
Mol Genet Metab
; 123(3): 382-387, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398271
20.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
J Inherit Metab Dis
; 41(2): 169-180, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29238895