Magdalena Klaniewska

Wroclaw, DS, Poland

Last Updated: 09/26/2026

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Found 11 publications

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.

Journal: Frontiers in pediatrics

Published: May 19, 2024

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Journal: Molecular genetics & genomic medicine

Published: March 29, 2023

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.

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.

Journal: Genes

Published: July 11, 2022

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.

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.

Journal: International journal of environmental research and public health

Published: June 01, 2022

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

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

Journal: Genes

Published: March 05, 2022

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

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

Journal: Frontiers in pediatrics

Published: September 26, 2021

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.

Journal: Frontiers in neurology

Published: August 15, 2021

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

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

Journal: Frontiers in medicine

Published: May 12, 2021

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

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

Journal: Irish journal of medical science

Published: May 08, 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.

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.

Journal: Genes

Published: February 06, 2021

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

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

Journal: Frontiers in genetics

Published: October 23, 2020

Showing 1-11 of 11

Last Updated: 09/26/2026