Suchergebnisse - "Pristoupilova, Anna"

PubPharm (36)

1

Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder

enthalten in: Genes, Brain and Behavior | 2024

von Mušálková, D. | Přistoupilová, A. | Jedličková, I. | +15

2

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder

enthalten in: Genes, brain, and behavior | 2024

von Mušálková, D. | Přistoupilová, A. | Jedličková, I. | +15

3

Genetic heterogeneity of neuronal intranuclear inclusion disease : What about the infantile variant?

enthalten in: Annals of clinical and translational neurology | 2021

von Sikora, J. | Jedlickova, I. | Pristoupilova, A. | +2

CommentOn: Ann Clin Transl Neurol. 2020 Sep;7(9):1716-1725. - PMID 32777174

4

Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations

enthalten in: American journal of nephrology | 2021

von Vylet'al, P. | Kidd, K. | Ainsworth, H. | +21

5

Genetic heterogeneity of neuronal intranuclear inclusion disease : What about the infantile variant?

enthalten in: Annals of Clinical and Translational Neurology | 2021

von Sikora, J. | Jedlickova, I. | Pristoupilova, A. | +2

6

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease

enthalten in: Journal of neuropathology and experimental neurology | 2020

von Jedlickova, I. | Pristoupilova, A. | Hulkova, H. | +12

7

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

enthalten in: Molecular genetics & genomic medicine | 2020

von Jedličková, I. | Přistoupilová, A. | Nosková, L. | +10

8

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

enthalten in: European journal of human genetics : EJHG | 2020

von Jedličková, I. | Cadieux-Dion, M. | Přistoupilová, A. | +15

9

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

enthalten in: Molecular Genetics & Genomic Medicine | 2020

von Jedličková, I. | Přistoupilová, A. | Nosková, L. | +10

10

Rare copy number variation in extremely impulsively violent males

enthalten in: Genes, brain, and behavior | 2019

von Vevera, J. | Zarrei, M. | Hartmannová, H. | +17