Detalhe da pesquisa
1.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413283
2.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
; 182(6): 2683-2692, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997769
3.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34612517
4.
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.
J Pediatr
; 225: 65-73.e5, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32502478
5.
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Am J Med Genet A
; 182(9): 2152-2160, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618121
6.
TBX4 variants and pulmonary diseases: getting out of the 'Box'.
Curr Opin Pulm Med
; 26(3): 277-284, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32195678
7.
Knowledge and attitude regarding pharmacogenetics among formerly pregnant women in the Netherlands and their interest in pharmacogenetic research.
BMC Pregnancy Childbirth
; 17(1): 120, 2017 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28410576
8.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Genet Med
; 18(9): 914-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820064
9.
The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?
Int J Mol Sci
; 17(8)2016 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27529241
10.
The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung.
Eur Respir J
; 54(2)2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439725
11.
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.
Am J Med Genet A
; 164A(12): 3003-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25257999
12.
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
J Med Genet
; 50(8): 500-6, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23592887
13.
The role of maternal-fetal cholesterol transport in early fetal life: current insights.
Biol Reprod
; 88(1): 24, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23153566
14.
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Orphanet J Rare Dis
; 18(1): 59, 2023 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36935482
15.
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Orphanet J Rare Dis
; 18(1): 68, 2023 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964621
16.
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Orphanet J Rare Dis
; 18(1): 60, 2023 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36935495
17.
The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?
Am J Obstet Gynecol
; 207(3): 202.e19-25, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22728028
18.
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Hum Mutat
; 32(2): E2018-25, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21280141
19.
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).
Orphanet J Rare Dis
; 16(1): 137, 2021 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741030
20.
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Front Pediatr
; 9: 600556, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136434