Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
2.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Br J Haematol
; 200(2): 249-255, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177683
3.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
4.
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Nephrol Dial Transplant
; 37(2): 349-357, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33306124
5.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
J Med Genet
; 55(9): 578-586, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970488
6.
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
J Am Soc Nephrol
; 29(6): 1772-1779, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654215
7.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Kidney Int
; 103(5): 986-989, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085259
8.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005418
9.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatr Nephrol
; 33(10): 1701-1712, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974258
10.
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Br J Haematol
; 198(3): 459-477, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661144
11.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390740
12.
A novel mutation of laminin ß2 (LAMB2) in two siblings with renal failure.
Eur J Pediatr
; 176(4): 515-519, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28188379
13.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney Int
; 89(2): 476-86, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489027
14.
Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.
Haematologica
; 101(9): 1018-27, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27247322
15.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nat Genet
; 39(7): 889-95, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546029
16.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
J Allergy Clin Immunol
; 133(2): 529-34, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24139496
17.
Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics First Approach.
Nephron
; 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447554
18.
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Hum Mutat
; 34(10): 1313-21, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23776008
19.
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Am J Hum Genet
; 86(2): 254-61, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20137777
20.
Identification of candidate genes for developmental colour agnosia in a single unique family.
PLoS One
; 18(9): e0290013, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37672513