Suchergebnisse - "van Slegtenhorst, Marjon A"

PubPharm (73)

1

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

enthalten in: bioRxiv.org | 2024

von Cousin, M. | Breau, K. | Creighton, B. | +64

2

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Lecoquierre, F. | Punt, A. | Ebstein, F. | +28

3

Cancer Treatment-Related Complications in Patients With Hypertrophic Cardiomyopathy

enthalten in: Mayo Clinic proceedings | 2024

von Zampieri, M. | Schoonvelde, S. | Vinci, M. | +12

4

Phenotypic variability of filamin C-related cardiomyopathy : Insights from a novel Dutch founder variant

enthalten in: Heart rhythm | 2023

von Schoonvelde, S. | Ruijmbeek, C. | Hirsch, A. | +9

CommentIn: Heart Rhythm. 2023 Nov;20(11):1522-1524. - PMID 37625473

5

Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

enthalten in: JCI insight | 2023

von Ruijmbeek, C. | Housley, F. | Idrees, H. | +18

6

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

enthalten in: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2023

von Bos, T. | Piers, S. | Wessels, M. | +24

7

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

enthalten in: Netherlands heart journal | 2023

von Bos, T. | Piers, S. | Wessels, M. | +18

8

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

enthalten in: Netherlands heart journal | 2023

von Bos, T. | Piers, S. | Wessels, M. | +18

9

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

enthalten in: Brain : a journal of neurology | 2023

von Pavinato, L. | Delle Vedove, A. | Carli, D. | +31

10

Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

enthalten in: bioRxiv.org | 2023

von Tadros, R. | Zheng, S. | Grace, C. | +57

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