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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.
Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Stembalska A, et al. Among authors: klaniewska m. Genes (Basel). 2022 Jul 27;13(8):1339. doi: 10.3390/genes13081339. Genes (Basel). 2022. PMID: 35893076 Free PMC article.
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.
Klaniewska M, Toczewski K, Rozensztrauch A, Bloch M, Dzielendziak A, Gasperowicz P, Slezak R, Ploski R, Rydzanicz M, Smigiel R, Patkowski D. Klaniewska M, et al. Front Pediatr. 2021 Dec 2;9:783553. doi: 10.3389/fped.2021.783553. eCollection 2021. Front Pediatr. 2021. PMID: 34926353 Free PMC article.
Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants.
Paprocka J, Nowak M, Nieć M, Janik I, Rydzanicz M, Robert Ś, Klaniewska M, Rutkowska K, Płoski R, Jezela-Stanek A. Paprocka J, et al. Among authors: klaniewska m. Front Med (Lausanne). 2021 Aug 26;8:708717. doi: 10.3389/fmed.2021.708717. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34513876 Free PMC article.
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.
Rozensztrauch A, Śmigiel R, Patkowski D, Gerus S, Kłaniewska M, Quitmann JH, Dellenmark-Blom M. Rozensztrauch A, et al. Among authors: klaniewska m. Int J Environ Res Public Health. 2022 Jun 30;19(13):8047. doi: 10.3390/ijerph19138047. Int J Environ Res Public Health. 2022. PMID: 35805703 Free PMC article.
12 results