Detalhe da pesquisa
1.
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
2.
Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
Am J Hematol;
89(4): 380-4, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24375447
3.
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Neurogenetics;
12(4): 315-23, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21837366
4.
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.
Am J Med Genet A;
149A(10): 2231-5, 2009 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19725132
5.
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Eur J Hum Genet;
26(11): 1566-1571, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29959382
6.
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
Nat Biotechnol;
32(10): 1019-25, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25129690
7.
[Stuttering: effects of genes and early treatment]. / Stotteren: effect van genen en van vroege therapie.
Ned Tijdschr Geneeskd;
155(42): A3514, 2011.
Artigo
em Holandês
| MEDLINE
| ID: mdl-22027460
8.
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
PLoS One;
4(5): e5324, 2009 May 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19492091
9.
Bleeding in carriers of hemophilia.
Blood;
108(1): 52-6, 2006 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16551972
10.
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.
Am J Med Genet A;
135(3): 297-301, 2005 Jun 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15887274
11.
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Arthritis Rheum;
48(9): 2632-44, 2003 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-13130484
12.
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
Arthritis Rheum;
50(8): 2719-20, 2004 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15334500