Detalhe da pesquisa
1.
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Mov Disord
; 35(5): 880-885, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922365
2.
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.
Genet Med
; 18(11): 1102-1110, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27031083
3.
Clinical utility of array comparative genomic hybridisation in prenatal setting.
BMC Med Genet
; 17(1): 81, 2016 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27846804
4.
Patterns and factors associated with low adherence to psychotropic medications during pregnancy--a cross-sectional, multinational web-based study.
Depress Anxiety
; 32(6): 426-36, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703355
5.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Hum Mutat
; 34(1): 237-47, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033313
6.
Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
Genes (Basel)
; 14(12)2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136988
7.
The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.
Mol Genet Genomic Med
; 7(6): e658, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004418
8.
Self-reported perinatal depressive symptoms and postnatal symptom severity after treatment with antidepressants in pregnancy: a cross-sectional study across 12 European countries using the Edinburgh Postnatal Depression Scale.
Clin Epidemiol
; 10: 655-669, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29922092
9.
Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis.
PLoS One
; 13(1): e0190601, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29324865
10.
Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.
PLoS One
; 12(6): e0180348, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28665986
11.
Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.
Sci Rep
; 7(1): 3715, 2017 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28623311
12.
C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.
BMC Ear Nose Throat Disord
; 5: 11, 2005 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-16336662
13.
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.
Mol Cytogenet
; 8: 83, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26526591
14.
The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis.
Dis Markers
; 2014: 362708, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24825926
15.
Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment.
Med Sci Monit
; 11(11): CR533-5, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16258398