20.500.12556/DiRROS-30703 Two cases of SPEN haploinsufficiency presenting with dystonia expanding the genotype and phenotype dystonia tremor SPEN protein haploinsuficiency subjective well-being chromosome 1p36 deletion syndrome intellectual disability true false true Angleški jezik Ni določen Neznano 2026-07-01 11:00:30 2026-07-01 11:00:30 2026-07-02 03:59:41 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis z dne 14. 1. 2026; str. 1550-1553 iss. 6 Vol. 13 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.8 2330-1619 10.1002/mdc3.70531 264612099 RAZ_Buikema_Lisa_2026.pdf RAZ_Buikema_Lisa_2026.pdf 1 B174F1572EF35554DC9D77398E0AABD6 aef6dd26fe8035f4e59da128c800e78f4191b394757c5a3448285fd4eb43db64 80caa34c-752b-11f1-b0d9-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=46835 https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.70531 0 89a6051d-752b-11f1-b0d9-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=46836 Univerzitetni klinični center Ljubljana 0 0 0