J. Šoukalová

发表

Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.

I. Míšek, J. Lochman, J. Vaněk, 2015, Neuro endocrinology letters.

Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

K. Réblová, I. Rektor, R. Gaillyová, 2022, Epilepsy & Behavior.

Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene

O. Slabý, J. Štěrba, J. Neradil, 2017, BMC Cancer.

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

P. Bielik, J. Vaněk, T. Zeman, 2018, PloS one.

Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

R. Gaillyová, J. Šoukalová, P. Kuglík, 2012, Molecular Syndromology.

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

R. Gaillyová, J. Štekrová, V. Kebrdlová, 2012, Gene.

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

B. Vojtesek, P. Bielik, J. Lochman, 2022, Clinical Oral Investigations.

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

T. Kalina, M. Vlková, E. Mejstrikova, 2019, Front. Immunol..

Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene

O. Slabý, J. Štěrba, J. Neradil, 2017, BMC Cancer.

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

J. Savige, J. Zapletalová, M. Vlčková, 2023, Frontiers in Medicine.

[Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant].

Š. Pospíšilová, R. Gaillyová, J. Štěrba, 2016, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

Two Distinct De novo Pathogenic Sequence Variants in the SCN2A Gene in Children with Early Infantile Epileptic Encephalopathy/Ohtahara Syndrome

R. Gaillyová, J. Oppelt, J. Smetana, 2017 .

DICER1 Syndrome.

H. Nosková, J. Šoukalová, O. Slabý, 2019, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

Genetic findings in Czech patients with limb girdle muscular dystrophy

K. Réblová, L. Fajkusová, S. Voháňka, 2023, Clinical genetics.

NON-JEWISH CHILD WITH CANAVAN DISEASE

J. Šoukalová, E. Slouková, 2009 .

DICER1 Syndrome.

H. Nosková, J. Šoukalová, O. Slabý, 2019, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.