Detalhe da pesquisa
1.
Informing a value care model: lessons from an integrated adult neurogenomics clinic.
Intern Med J
; 53(12): 2198-2207, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092903
2.
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Brain
; 143(10): e82, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949124
3.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Am J Hum Genet
; 90(2): 356-62, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284827
4.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Am J Hum Genet
; 87(1): 26-39, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20579627
5.
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
Am J Hum Genet
; 85(5): 711-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19878917
6.
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Ophthalmology
; 119(3): 596-605, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22182799
7.
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Mol Genet Genomic Med
; 10(5): e1923, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293157
8.
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Int J Cardiol
; 330: 128-134, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581180
9.
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mol Vis
; 16: 540-8, 2010 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20361016
10.
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
J Endocr Soc
; 4(10): bvaa104, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939435
11.
KBG syndrome presenting with brachydactyly type E.
Bone
; 123: 18-22, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877071
12.
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes.
Fam Cancer
; 7(2): 119-24, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17636421
13.
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Adv Exp Med Biol
; 723: 595-601, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22183383
14.
Understanding the impact of genetic testing for inherited retinal dystrophy.
Eur J Hum Genet
; 21(11): 1209-13, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403902
15.
Understanding the expectations of patients with inherited retinal dystrophies.
Br J Ophthalmol
; 97(8): 1057-61, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740962
16.
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
Acta Ophthalmol
; 90(3): e192-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22008250
17.
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
Br J Ophthalmol
; 96(5): 719-22, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22174098
18.
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
Invest Ophthalmol Vis Sci
; 52(3): 1880-6, 2011 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20811058