Magdalena Klaniewska
5PUBLICATIONS
7CO-AUTHORS
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Publications (5)
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|Apr 03, 2024
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.Kłaniewska M, Rydzanicz M, Bladowska J
|Sep 02, 2023
Clinical heterogeneity of polish patients with KAT6B-related disorder.Magdalena Klaniewska, Anna Bolanowska-Tyszko, Anna Latos-Bielenska
|Jul 27, 2022
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska
|May 28, 2022
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas
|Mar 06, 2021
The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.Ewelina Wolańska, Agnieszka Pollak, Małgorzata Rydzanicz
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