Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Genet Med
; 23(6): 1137-1142, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564150
3.
Defining a Centiloid scale threshold predicting long-term progression to dementia in patients attending the memory clinic: an [18F] flutemetamol amyloid PET study.
Eur J Nucl Med Mol Imaging
; 48(1): 302-310, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601802
4.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579715
5.
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Prenat Diagn
; 40(10): 1272-1283, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436253
6.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714006
7.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670881
8.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243349
9.
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Brain
; 140(6): 1579-1594, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444220
10.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Prenat Diagn
; 38(13): 1120-1128, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334587
11.
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Hum Mutat
; 38(5): 581-593, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28236341
12.
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Am J Med Genet A
; 170A(5): 1216-24, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789649
13.
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Acta Derm Venereol
; 96(4): 468-72, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608363
14.
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
Am J Med Genet A
; 167A(8): 1822-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25931334
15.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Am J Hum Genet
; 88(6): 796-804, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596365
16.
Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
Am J Med Genet A
; 164A(7): 1789-94, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700699
17.
An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease.
Eur J Pediatr
; 173(12): 1607-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24135798
18.
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
Genet Med
; 15(3): 195-202, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22995989
19.
Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm.
Prenat Diagn
; 38(5): 337-343, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500832
20.
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.
Eur J Med Genet
; 66(2): 104692, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36592689