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Št. zadetkov: 3
Historical patterns of diagnosis, treatments, and outcome of epilepsy associated with tuberous sclerosis complex
Rima Nabbout, Elena Belousova, Mirjana Perković-Benedik, Tom D. Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, Jose C. Ferreira
Izvirni znanstveni članek
Oznake: epilepsy;tuberous sclerosis complex;TOSCA registry;
Leto: 2021 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Rare manifestations and malignancies in tuberous sclerosis complex
Matthias Sauter, Elena Belousova, Mirjana Perković-Benedik, Tom D. Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, Jose C. Ferreira
Izvirni znanstveni članek
Oznake: malignancy;tuberous sclerosis complex;TOSCA registry;
Background: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. Howe ...
Leto: 2021 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome
Jan Kafol, Barbara Gnidovec Stražišar, Ana Drole Torkar, Matjaž Homan, Sara Bertok, Matej Mlinarič, Jaka Šikonja, Jernej Kovač, Mirjana Perković-Benedik, Tanja Kersnik-Levart, Mojca Žerjav-Tanšek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Grošelj, Urh Grošelj
Pregledni znanstveni članek
Oznake: ARC syndrome;ARCS2;Arthrogryposis–renal dysfunction–cholestasis syndrome;VIPAR;VIPAS39;
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results: We present two related patients from Kosovo, describing the clinical, geneti ...
Leto: 2024 Vir: Repozitorij Univerze v Ljubljani (RUL)
Št. zadetkov: 3
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