Detalhe da pesquisa
1.
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
2.
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Br J Dermatol
; 189(6): 741-749, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671665
3.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
J Med Genet
; 59(6): 544-548, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963046
4.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
5.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783266
6.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30356099
7.
Renal anomalies and lymphedema distichiasis syndrome. A rare association?
Am J Med Genet A
; 173(8): 2251-2256, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544699
8.
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Am J Med Genet A
; 170(3): 754-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26728615
9.
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.
Prenat Diagn
; 35(13): 1336-41, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26429400
10.
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.
Clin Dysmorphol
; 32(2): 49-54, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36876344
11.
Jedi-1/MEGF12-mediated phagocytosis controls the pro-neurogenic properties of microglia in the ventricular-subventricular zone.
Cell Rep
; 42(11): 113423, 2023 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37952151
12.
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
JHEP Rep
; 5(8): 100764, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37484212
13.
Jedi-1/MEGF12-mediated phagocytosis controls the pro-neurogenic properties of microglia in the ventricular-subventricular zone.
bioRxiv
; 2023 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945622
14.
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
Eur J Med Genet
; 65(10): 104572, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918038
15.
Estimating the clinical prevalence of Wilson's disease in the UK.
JHEP Rep
; 3(5): 100329, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34381985
16.
Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.
Am J Med Genet A
; 164A(8): 2121-3, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24753439
17.
Correction to: A meta-analysis of consanguinity and breast cancer.
Ir J Med Sci
; 188(1): 353, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700732
18.
A meta-analysis of consanguinity and breast cancer.
Ir J Med Sci
; 187(4): 895-899, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574661
19.
An approach to familial lymphoedema.
Clin Med (Lond)
; 17(6): 552-557, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196357
20.
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
Clin Kidney J
; 7(3): 303-5, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25852895