Miroslava Balaščaková

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová et autres

cz (code pays fourni par la source)

Author response for "Genetic and Structural Variations in Czech Patients With Congenital Myopathies"

Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová et autres

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review

Jakub Zieg, Terézia Tavačová, Miroslava Balaščaková, Petra Peldová et autres

cz (code pays fourni par la source)

NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis

Michaela Šibíková, Filip Fencl, Jan David, Karel Vondrák et autres

cz (code pays fourni par la source)

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomáš Brdička et autres

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

COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

Barbora Straka, Markéta Vlčková, Zuzana Libá, Barbora Heřmanovská et autres

cz (code pays fourni par la source)

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomáš Brdička et autres

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

Genetic Testing for Malformations of Cortical Development

Barbora Straka, Barbora Heřmanovská, Lenka Krsková, Josef Zámečnı́k et autres

cz (code pays fourni par la source)

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

Sophia Weidler, Konrad H. Stopsack, J. Hammermann, Olaf Sommerburg et autres

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

25 Cystic fibrosis (CF) prevalence derived from CF newborn screening (CFNBS) in the Czech Republic: comparison of previous epidemiological and current CFNBS-based disease prevalence data

Veronika Krulišová, A. Holubová, T. Piskáčková, Miroslava Balaščaková et autres

32 Uptake of genetic counseling and analysis of DNA testing outcomes following newborn screening for cystic fibrosis: Experience of the Prague centre

A. Holubová, Veronika Krulišová, T. Piskáčková, Miroslava Balaščaková et autres

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Jakub Zieg, Anna Křepelová, Alireza Baradaran‐Heravi, Elena Levtchenko et autres

cz, ca, be, es (code pays fourni par la source)