Detalhe da pesquisa
1.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
2.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
3.
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
J Assist Reprod Genet
; 35(11): 1995-2002, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187425
4.
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Circ Genom Precis Med
; 17(2): e004416, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516780
5.
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Mol Syndromol
; 14(4): 270-282, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589029
6.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
7.
Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge.
BMJ Case Rep
; 12(11)2019 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31791989
8.
Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis.
Fertil Steril
; 111(6): 1151-1158, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005312