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Środowisko górskie jako miejsce aktywnego wypoczynku i związane z tym niebezpieczeństwa z uwzględnieniem wypadków w Tatrach Polskich.
- Published in:
- Environmental Medicine / Medycyna Srodowiskowa, 2018, v. 21, n. 3, p. 43, doi. 10.19243/2018306
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- Publication type:
- Article
Wpływ stosowania magnezji białej na stan zdrowia użytkowników zamkniętych obiektów wspinaczkowych.
- Published in:
- Environmental Medicine / Medycyna Srodowiskowa, 2018, v. 21, n. 1, p. 50, doi. 10.19243/2018107
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- Publication type:
- Article
Dolegliwości zdrowotne u rowerzystów w mieście - badanie pilotażowe.
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- Environmental Medicine / Medycyna Srodowiskowa, 2017, v. 20, n. 4, p. 28, doi. 10.19243/2017404
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- Article
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.
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- 2022
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- Publication type:
- Case Study
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
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- 2022
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- Publication type:
- Case Study
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.
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- 2022
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- Publication type:
- Case Study
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
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- Genes, 2021, v. 12, n. 7, p. 1078, doi. 10.3390/genes12071078
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- Article
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.
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- Frontiers in Genetics, 2021, v. 14, p. N.PAG, doi. 10.3389/fgene.2021.620752
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- Article
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428
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- Article
CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts.
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- Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 2, p. 148, doi. 10.5114/POLP.2021.107401
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- Article
Destabilization of mutated human PUS3 protein causes intellectual disability.
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- Human Mutation, 2022, v. 43, n. 12, p. 2063, doi. 10.1002/humu.24471
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- Publication type:
- Article
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
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- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2220, doi. 10.3390/jcm9072220
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- Publication type:
- Article
Distinct characteristics of multisystem inflammatory syndrome in children in Poland.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02669-2
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- Publication type:
- Article
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1772
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- Publication type:
- Article