Detalhe da pesquisa
1.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
2.
Exploring the family experience of children aged 2-4 years receiving daily vosoritide injections: A qualitative study.
J Pediatr Nurs
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38604940
3.
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
Am J Hum Genet
; 107(2): 175-182, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763188
4.
A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia.
Genet Med
; 25(10): 100920, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330695
5.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
6.
Australian guidelines for the management of children with achondroplasia.
J Paediatr Child Health
; 59(2): 229-241, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36628540
7.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
8.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
N Engl J Med
; 381(1): 25-35, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31269546
9.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107167
10.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891212
11.
Cardiovascular risk factors and body composition in adults with achondroplasia.
Genet Med
; 23(4): 732-739, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33204020
12.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341520
13.
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
14.
Culturally competent communication in Indigenous disability assessment: a qualitative study.
Int J Equity Health
; 20(1): 68, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648504
15.
"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.
Int J Equity Health
; 20(1): 103, 2021 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33865398
16.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
J Med Genet
; 57(7): 454-460, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988067
17.
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
18.
Current knowledge of medical complications in adults with achondroplasia: A scoping review.
Clin Genet
; 97(1): 179-197, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30916780
19.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet
; 99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
20.
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.
Genet Med
; 21(9): 2070-2080, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696995