Lenka Nosková

发表

Rare copy number variation in extremely impulsively violent males

John Wei, S. Scherer, K. Hodaňová, 2018, Genes, brain, and behavior.

Rare Copy Number Variation In an Extremely Impulsively Violent Males:

K. Hodaňová, H. Hartmannová, L. Nosková, 2018 .

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

M. Skopkova, D. Gašperíková, M. Karhanek, 2023, Orphanet Journal of Rare Diseases.

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

J. Kautzner, K. Hodaňová, H. Hartmannová, 2013, Circulation. Cardiovascular genetics.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

K. Hejzlarová, M. Tesařová, M. Vrbacký, 2008, Nature Genetics.

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

K. Hodaňová, H. Hartmannová, M. Zarrei, 2024, Genes, brain, and behavior.

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

H. Budka, K. Hodaňová, H. Hartmannová, 2013, Journal of the Neurological Sciences.

Additional file 12

John Herbert, Francesca M. Buffa, Henrik Vorschmitt, 2008 .

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

E. van de Steeg, H. Hartmannová, L. Nosková, 2012, The Journal of clinical investigation.

Expression and processing of the TMEM70 protein.

K. Hejzlarová, M. Tesařová, Alena Vrbacká-Čížková, 2011, Biochimica et biophysica acta.

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

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

C. van Broeckhoven, H. Hartmannová, L. Nosková, 2011, American journal of human genetics.

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

M. Fukata, Y. Fukata, V. Stránecký, 2023, Brain communications.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Ne

C. Broeckhoven, H. Hartmannová, S. Kmoch, 2011 .