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Authors
- Abazi, Nora
- Avčin, Tadej
- Battelino, Tadej
- Bertok, Sara
- Constantin, Tamas
- Debeljak, Maruša
- Groselj, Urh
- Kovac, Jernej
- Kuzmanovska, Dafina
- Mulaosmanović, Velma
- Perko, Dasa
- Perko, Daša
- Radović, Jelena
- Repic Lampret, Barbka
- Smon, Andraz
- Szabados, Beatrix
- Toplak, Nataša
- Trebusak Podkrajsek, Katarina
- Vojnović, Jelena
- Zerjav Tansek, Mojca
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Topics
- Acyl-CoA Dehydrogenase, Long-Chain
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Carbon-Carbon Ligases
- Carrier Proteins
- Child
- Child, Preschool
- Congenital Bone Marrow Failure Syndromes
- Cytoskeletal Proteins
- DNA Mutational Analysis
- DNA-Binding Proteins
- Europe
- Exons
- Female
- Humans
- Male
- Mutation
- Pyrin
- diagnosis
- genetics
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