Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36669495
2.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35607920
3.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36251260
4.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Am J Med Genet A
; 185(12): 3814-3820, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34254723
5.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31433103
6.
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Prenat Diagn
; 38(12): 911-919, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30187503
7.
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
J Invest Dermatol
; 144(2): 284-295.e16, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37716648
8.
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.
Eur J Med Genet
; 65(2): 104424, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35031499
9.
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
Mol Ther Methods Clin Dev
; 17: 337-348, 2020 Jun 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32071926
10.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Eur J Hum Genet
; 27(6): 919-927, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30737479
11.
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
Sci Rep
; 8(1): 15436, 2018 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-30337552
12.
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Eur J Med Genet
; 61(12): 783-789, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-30391508
13.
Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.
J Renin Angiotensin Aldosterone Syst
; 7(4): 225-30, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17318792
14.
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Eur J Hum Genet
; 24(10): 1424-9, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27329734
15.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Eur J Hum Genet
; 23(9): 1142-50, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25626705
16.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Eur J Hum Genet
; 23(9): 1270, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26269248
17.
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II.
Hypertension
; 48(4): 564-71, 2006 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-16940215
18.
77th Scientific Sessions of the American Heart Association.
Expert Opin Investig Drugs
; 14(2): 203-7, 2005 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-15757397
19.
Prorenin uptake in the heart: a prerequisite for local angiotensin generation?
J Mol Cell Cardiol
; 34(11): 1463-72, 2002 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-12431445
20.
Prorenin-induced myocyte proliferation: no role for intracellular angiotensin II.
Hypertension
; 39(2 Pt 2): 573-7, 2002 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-11882610