Magdalena Kłaniewska

Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia

R. Śmigiel, D. Patkowski, J. Quitmann, 2022, International journal of environmental research and public health.

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

R. Płoski, M. Rydzanicz, R. Śmigiel, 2022, Genes.

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

R. Płoski, M. Rydzanicz, R. Śmigiel, 2021, Frontiers in Pediatrics.

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

R. Płoski, M. Rydzanicz, R. Śmigiel, 2021, Genes.

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

A. Jezela-Stanek, R. Śmigiel, J. Paprocka, 2022, Frontiers in Neurology.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

R. Płoski, M. Rydzanicz, R. Śmigiel, 2022, Genes.

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

A. Jezela-Stanek, R. Płoski, M. Rydzanicz, 2021, Frontiers in Medicine.

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

R. Płoski, M. Rydzanicz, M. Jędrzejowska, 2021, Frontiers in Genetics.

Factors affecting the mother’s choice of infant feeding method in Poland: a cross-sectional preliminary study in Poland

A. Rozensztrauch, Magdalena Kłaniewska, Marta Berghausen-Mazur, 2021, Irish Journal of Medical Science (1971 -).