Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.
J Med Genet
; 61(4): 399-404, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38123995
3.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38362852
4.
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Eur J Pediatr
; 183(1): 345-355, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889289
5.
Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges.
Phys Occup Ther Pediatr
; 43(1): 74-92, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695004
6.
Tailored interviewing to uncover the perspectives of children with multiple disabilities on daily activities: A qualitative analyses of interview methods and interviewer skills.
Aust Occup Ther J
; 70(2): 175-189, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36149673
7.
Using PRPP-Assessment for measuring change in everyday activities by home-based videos: An exploratory case series study in children with multiple disabilities.
Aust Occup Ther J
; 70(6): 644-660, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365675
8.
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.
Am J Med Genet A
; 188(5): 1578-1582, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084080
9.
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
Am J Med Genet A
; 188(12): 3510-3515, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36000780
10.
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
J Med Genet
; 58(1): 48-55, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439810
11.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci
; 23(22)2022 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430143
12.
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
Am J Med Genet A
; 185(2): 571-574, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247988
13.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522091
14.
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
BMC Neurol
; 21(1): 313, 2021 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384384
15.
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults.
Blood
; 139(3): 461-464, 2022 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788385
16.
Quantification of gait in children with mitochondrial disease.
J Inherit Metab Dis
; 41(4): 731-740, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29532198
17.
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.
J Inherit Metab Dis
; 41(6): 1267-1273, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30027425
18.
Assisted 6-minute cycling test: An exploratory study in children.
Muscle Nerve
; 54(2): 232-8, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26718768
19.
International Paediatric Mitochondrial Disease Scale.
J Inherit Metab Dis
; 39(5): 705-712, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27277220
20.
The genomic landscape of breast- and non-breast cancers from individuals with germline CHEK2-deficiency.
JNCI Cancer Spectr
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848470