Detalhe da pesquisa
1.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36385166
2.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
J Clin Immunol
; 42(5): 962-974, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35320431
3.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Genet Med
; 23(6): 1137-1142, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33564150
4.
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Prenat Diagn
; 40(10): 1272-1283, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32436253
5.
Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach.
J Med Ethics
; 46(2): 104-109, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31527144
6.
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.
Am J Med Genet A
; 191(9): 2451-2453, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37596899
7.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Prenat Diagn
; 38(13): 1120-1128, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30334587
8.
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
Genet Med
; 19(3): 306-313, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27584908
9.
Non-invasive prenatal testing detects blood chimerism in dizygotic twins.
Prenat Diagn
; 42(2): 236-239, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34962654
10.
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.
Prenat Diagn
; 36(8): 760-5, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27293081
11.
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.
Neurobiol Dis
; 65: 211-9, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24521780
12.
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
Birth Defects Res A Clin Mol Teratol
; 100(10): 797-800, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25200913
13.
The impact of confined placental mosaicism on prenatal cell-free DNA screening: Insights from a monocentric study of 99 cases.
Placenta
; 152: 17-22, 2024 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38744036
14.
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
Heliyon
; 10(1): e23746, 2024 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38192810
15.
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.
Eur J Hum Genet
; 32(1): 31-36, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37029316
16.
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Am J Hum Genet
; 87(4): 513-22, 2010 Oct 08.
Artigo
Inglês
| MEDLINE | ID: mdl-20920666
17.
Direct detection of guidance receptor activity during border cell migration.
Proc Natl Acad Sci U S A
; 107(16): 7323-8, 2010 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-20368415
18.
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Nat Genet
; 36(11): 1213-8, 2004 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-15489854
19.
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Diagnostics (Basel)
; 13(5)2023 Feb 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36900003
20.
Longitudinal Copy-Number Alteration Analysis in Plasma Cell-Free DNA of Neuroendocrine Neoplasms is a Novel Specific Biomarker for Diagnosis, Prognosis, and Follow-up.
Clin Cancer Res
; 28(2): 338-349, 2022 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34759042