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RASopathies
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Mgr. Darina Prchalová Ph.D.
Academic staff at Second Faculty of Medicine
15 publications
Publications
publication
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
2018 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
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
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics
2019 |
Second Faculty of Medicine, Faculty of Science
publication
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2019 |
Second Faculty of Medicine
publication
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019 |
Second Faculty of Medicine
publication
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
2019 |
Second Faculty of Medicine
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