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Anna Kłosowska

Observed names: A. Klosowska, A. Kłosowska, Anna Klosowska, Klosowska, Anna, Kłosowska A
ORCID: 0000-0002-4378-5683
Observed ORCID: 0000-0002-4378-5683
OpenAlex ID: A5059654458
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020 · Stefan Groeneweg, Ferdy S van Geest, et al. · The Lancet Diabetes & Endocrinology · 117
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Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology
2016 · A. Charzewska, J. Wierzba, et al. · Clinical Genetics · 66
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
2021 · Ferdy S van Geest, Stefan Groeneweg, et al. · The Journal of Clinical Endocrinology & Metabolism · 52
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Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters
2022 · Edyta Wernio, Anna Kłosowska, et al. · Nutrients · 20
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Relationship between growth and intelligence quotient in children with Down syndrome
2022 · Anna Kłosowska, Agnieszka Kuchta, et al. · Translational Pediatrics · 16
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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
2025 · Stefan Groeneweg, van Geest Ferdy S., et al. · Yearbook of pediatric endocrinology · 10
Effective Sirolimus Use in Prenatal and Postnatal Management of Symptomatic Extensive Congenital Capillary-Lymphatic-Venous Malformations (CLVMs): A Report of Two Cases
2025 · Anna Klosowska, Malgorzata Styczewska, et al. · Pediatric Drugs · 10
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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
2025 · Malgorzata Styczewska, Malgorzata A. Krawczyk, et al. · Pediatric Blood & Cancer · 7
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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
2025 · Stefan Groeneweg, Ferdy S. van Geest, et al. · Nature Communications · 6
Macrocephaly and developmental delay caused by missense variants in RAB5C
2023 · Klaas Koop, Weimin Yuan, et al. · Human Molecular Genetics · 6
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Down syndrome, increased risk of dementia and lipid disturbances.
2017 · Anna Kłosowska, Agnieszka Ćwiklińska, et al. · PubMed Central · 5
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Lipid Profile, Lp(a) Levels, and HDL Quality in Adolescents with Down Syndrome
2022 · Aleksandra Krzesińska, Anna Kłosowska, et al. · Journal of Clinical Medicine · 4
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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
2022 · Greta Sibrecht, Katarzyna Wróblewska-Seniuk, et al. · Biomedicines · 3
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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2021 · Groeneweg S, van Geest FS, et al. · Yearbook of pediatric endocrinology · 2
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed
2026 · Silvestre Cuinat, Valérie Cormier-Daire, et al. · Genetics in Medicine · 1
Overexpression of HER2 protein in lymph node-negative breast cancer patients
2003 · Anna Kłosowska, Joanna Skręt, et al. · Contemporary Oncology/Współczesna Onkologia · 1
EP06.49: Prenatal detection of large complicated lympho‐venous malformation: effective and safe maternal sirolimus treatment
2024 · N.K. Mazur, A. Klosowska, et al. · Ultrasound in Obstetrics and Gynecology
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Supplementary material to: Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study
2021 · F.S. vanGeest, Stefan Groeneweg, et al. · The Journal of Clinical Endocrinology & Metabolism
Zespół Lescha-Nyhana — opóźnienie rozwoju psychoruchowego o nietypowym przebiegu klinicznym. Trudności diagnostyczne
2015 · Anna Kłosowska, Maria Giżewska, et al. · Forum Medycyny Rodzinnej
516 Development of Selective PIM Kinase Inhibitors for Cancer Treatment
2012 · K. Brzozka, R. Windak, et al. · European Journal of Cancer
Works count: 22
Citation count: 326
H-index: 7
I10-index: 7
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