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.
Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.
Pediatr Nephrol
; 37(3): 601-612, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476601
3.
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Clin Genet
; 96(2): 126-133, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919934
4.
Serological and genetic complement alterations in infection-induced and complement-mediated hemolytic uremic syndrome.
Pediatr Nephrol
; 32(2): 297-309, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718086
5.
Complement Factor H Serum Levels Determine Resistance to Pneumococcal Invasive Disease.
J Infect Dis
; 213(11): 1820-7, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802141
6.
Sensitive, reliable and easy-performed laboratory monitoring of eculizumab therapy in atypical hemolytic uremic syndrome.
Clin Immunol
; 160(2): 237-43, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26111482
7.
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency.
Eur J Pediatr
; 173(12): 1591-4, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23963626
8.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Int J Neonatal Screen
; 10(1)2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535124
9.
The challenge of managing hemophilia A and STEC-induced hemolytic uremic syndrome.
Pediatr Nephrol
; 28(2): 349-52, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23001024
10.
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.
Endocrinol Diabetes Metab Case Rep
; 2023(2)2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185284
11.
Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center.
Sex Dev
; 2023 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37699373
12.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Int J Neonatal Screen
; 9(4)2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873847
13.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Front Genet
; 14: 1304520, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38259611
14.
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.
J Hum Genet
; 57(7): 459-64, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22622361
15.
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
Pediatr Nephrol
; 27(9): 1519-24, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22669319
16.
Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.
Pediatr Nephrol
; 27(8): 1283-91, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22410797
17.
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Int J Neonatal Screen
; 8(1)2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323196
18.
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Endocr Connect
; 11(12)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228316
19.
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
Nephrol Dial Transplant
; 25(7): 2195-202, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20106822
20.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
J Neuromuscul Dis
; 6(2): 241-258, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127727