Miroslava Hancarova

8PUBLICATIONS
113CO-AUTHORS
Neurology and neuromuscular diseasesMedical genetics (excl. cancer genetics)Gene mappingGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
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Publications (8)

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Jan 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel

|Feb 25, 2023
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.

Marketa Vlckova, Darina Prchalova, Pavel Zimmermann

|Aug 02, 2019
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.

Miroslava Hancarova, Marketa Havlovicova, Martina Putzova

|Jul 24, 2019
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.

Miroslava Hancarova, Davit Babikyan, Sarka Bendova

|Dec 01, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Susan M Hiatt, Matthew B Neu, Ryne C Ramaker

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Frequent Collaborators

4 joint publications

Zdenek Sedlacek

2 joint publications

Viktor Stranecky

2 joint publications

Marlene Rio

2 joint publications

Marketa Vlckova