Detalhe da pesquisa
1.
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Circulation
; 145(8): 606-619, 2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35113653
2.
De novo variants in the PABP domain of PABPC1 lead to developmental delay.
Genet Med
; 24(8): 1761-1773, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511136
3.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 23(1): 103-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820247
4.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
5.
Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
Am J Med Genet A
; 176(5): 1216-1221, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681102
6.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 24(4): 965, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394427
7.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
8.
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Retina
; 37(1): 161-172, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27380427
9.
Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Eur J Public Health
; 27(2): 372-377, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27485720
10.
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat
; 36(1): 106-17, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385192
11.
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.
Prenat Diagn
; 35(10): 945-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25767004
12.
Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
J Clin Lipidol
; 17(2): 291-296, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604244
13.
[A female with excessive wrinkling of the hands]. / Gerimpelde handpalmen na contact met water.
Ned Tijdschr Geneeskd
; 1662022 05 09.
Artigo
em Holandês
| MEDLINE | ID: mdl-35899726
14.
How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples.
Eur J Hum Genet
; 29(1): 39-50, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773775
15.
Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.
Eur J Hum Genet
; 29(8): 1252-1258, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155360
16.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
HGG Adv
; 2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791682
17.
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Circ Res
; 102(11): 1433-42, 2008 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18451335
18.
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.
Eur J Hum Genet
; 26(2): 166-175, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321671
19.
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Eur J Hum Genet
; 26(12): 1752-1758, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089828
20.
With expanded carrier screening, founder populations run the risk of being overlooked.
J Community Genet
; 8(4): 327-333, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28555434