Detalhe da pesquisa
1.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814847
2.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464339
3.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245513
4.
Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.
Am J Med Genet A
; 179(2): 257-265, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556292
5.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
6.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
7.
Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.
J Paediatr Child Health
; 53(7): 650-656, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449382
8.
Outcomes of triaging and redirecting children referred to a public tertiary paediatric service with developmental-behavioural concerns.
J Paediatr Child Health
; 55(8): 999-1000, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31386291
9.
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Mol Genet Genomic Med
; 8(6): e1173, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32304187
10.
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Nat Genet
; 50(10): 1442-1451, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224647
11.
Integrated Care Systems and the Aortovascular Hub.
Thromb Haemost
; 122(2): 177-180, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407555
12.
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Eur J Med Genet
; 60(2): 130-135, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27915094
13.
First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.
Fam Cancer
; 15(1): 57-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386697
14.
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.
Arch Dis Child
; 101(9): 843-6, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26868039
15.
Ventricular Hinge Point Fibrosis as a Pathological Marker of Hypertrophic Cardiomyopathy in the Absence of Significant Left Ventricular Hypertrophy?
Can J Cardiol
; 32(12): 1577.e13-1577.e14, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27177834
16.
Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy.
Eur J Prev Cardiol
; 27(7): 777-779, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30348007
17.
Aneurysmal 'pepper-pot' atrial septal defect in an older gentleman with multiple cerebrovascular attacks.
BMJ Case Rep
; 20122012 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22605008
18.
The tale of a nail continues: further delineation using CGHarray of the critical region at 4q34 causing the volar nail sign.
Clin Dysmorphol
; 23(4): 152-4, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25003208