Ivana Jedličková

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics - Nasopharyngeal swab collection; Visualization of in silico HSF predictions and ATP7B Exon 8 skipping

Lenka Steiner Mrázková, Alena Čížková Vrbacká, Filip Majer, Viktor Stránecký et autres

cz, sk, no (code pays fourni par la source)

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics - Nasopharyngeal swab collection; Visualization of in silico HSF predictions and ATP7B Exon 8 skipping

Lenka Steiner Mrázková, Alena Čížková Vrbacká, Filip Majer, Viktor Stránecký et autres

cz, sk, no (code pays fourni par la source)

WED-288 Utility of mRNA analysis in nasopharyngeal brushings from Wilson disease patients and carriers of ATP7B mutations to detect alterations in gene splicing

Luis García‐Villarreal, Lenka Mrazova, Antonio Tugores, Maria Viera et autres

60 - UTILIDAD DEL ESTUDIO DEL ARNM EN CEPILLADO NASOFARÍNGEO DE PACIENTES DE ENFERMEDAD DE WILSON (EW) Y PORTADORES DE MUTACIONES DE LA ATP7B PARA DETECTAR ERRORES DE “SPLICING” DEL GEN

Luis García-Villarreal, Lenka Steiner Mrazova, Antonio Tugores, Maria A Viera et autres

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics

Lenka Steiner Mrázová, Alena Čížková Vrbacká, Filip Majer, Viktor Stránecký et autres

cz, sk, mx (code pays fourni par la source)

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

Dita Mušálková, Anna Přistoupilová, Ivana Jedličková, Hana Hartmannová et autres

cz, gb, ca, us (code pays fourni par la source)

Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat

Jiří Funda, Josep A. Villena, Kristina Bardová, Kateřina Adamcová et autres

cz, es (code pays fourni par la source)

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

Mark Sicking, Martina Živná, Pratiti Bhadra, Veronika Barešová et autres

de, cz, us (code pays fourni par la source)

Genetic and molecular basis of neurodegenerative and neuropsychiatric diseases

Ivana Jedličková

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

Jakub Sikora, Ivana Jedličková, Anna Přistoupilová, Viktor Stránecký et autres

cz (code pays fourni par la source)

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

Ivana Jedličková, Anna Přistoupilová, Helena Hůlková, Alena Vrbacká et autres

tw, cz (code pays fourni par la source)

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Martina Živná, Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal et autres

cz, us, fr, gb, cy, de, hu, pl, it, Tunisie, be, ca (code pays fourni par la source)