Detalhe da pesquisa
1.
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
J Anat
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760592
2.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
3.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
4.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186545
5.
The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.
J Craniofac Surg
; 34(7): 1985-1988, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37477198
6.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
7.
Engaging young people within a collaborative knowledge mobilization network: Development and evaluation.
Health Expect
; 25(2): 617-627, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34953012
8.
Prioritizing core components of successful transitions from child to adult mental health care: a national Delphi survey with youth, caregivers, and health professionals.
Eur Child Adolesc Psychiatry
; 31(11): 1739-1752, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089382
9.
Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.
J Craniofac Surg
; 33(5): 1428-1430, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275865
10.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429528
11.
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.
Neurogenetics
; 21(4): 305-308, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500351
12.
"Objectively terrifying": a qualitative study of youth's experiences of transitions out of child and adolescent mental health services at age 18.
BMC Psychiatry
; 20(1): 147, 2020 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32245439
13.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Am J Med Genet C Semin Med Genet
; 181(4): 502-508, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479583
14.
Engaging youth in research planning, design and execution: Practical recommendations for researchers.
Health Expect
; 21(6): 944-949, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29858526
15.
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Genet Med
; 18(5): 483-93, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204423
16.
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
BMC Med Genet
; 17(1): 34, 2016 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27113213
17.
Genomic testing in patients with renal disease.
Br J Hosp Med (Lond)
; 84(7): 1-11, 2023 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490441
18.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Eur J Hum Genet
; 31(12): 1421-1429, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704779
19.
Targeting cancer-cell mitochondria and metabolism to improve radiotherapy response.
Transl Oncol
; 14(1): 100905, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069104
20.
Mixed-methods study protocol for an evaluation of the mental health transition navigator model in child and adolescent mental health services: the Navigator Evaluation Advancing Transitions (NEAT) study.
BMJ Open
; 11(6): e051190, 2021 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34187834