Anna Klosowska
Gdansk, PM, Poland
Last Updated: 09/26/2026
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Found 14 publications
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Retrospective Multicenter Study on Childhood Kaposiform Hemangioendothelioma (2007-2024): Report of the Section of Childhood Vascular Anomalies of the Polish Society of Pediatric Oncology and Hematology.
Journal: Pediatric blood & cancer
Published: August 05, 2025
Effective Sirolimus Use in Prenatal and Postnatal Management of Symptomatic Extensive Congenital Capillary-Lymphatic-Venous Malformations (CLVMs): A Report of Two Cases.
Journal: Paediatric drugs
Published: June 05, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Journal: Nature communications
Published: February 29, 2024
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Journal: Human molecular genetics
Published: March 30, 2023
Multispecialty Approach to a Very Large Congenital Head and Neck Cystic Lymphatic Malformation in an Infant Born by SARS-CoV-2 Positive Mother-A Case Report.
Journal: Biomedicines
Published: August 24, 2022
Lipid Profile, Lp(a) Levels, and HDL Quality in Adolescents with Down Syndrome.
Journal: Journal of clinical medicine
Published: June 29, 2022
Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters.
Journal: Nutrients
Published: April 27, 2022
Relationship between growth and intelligence quotient in children with Down syndrome.
Journal: Translational pediatrics
Published: September 03, 2021
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
Journal: The Journal of clinical endocrinology and metabolism
Published: May 22, 2021
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Journal: The lancet. Diabetes & endocrinology
Published: January 31, 2020
Last Updated: 09/26/2026