Iskalni niz:
išči po
išči po
išči po
išči po
Vrsta gradiva:
Jezik:
Št. zadetkov: 3
Streamlined two-step fragment analysis PCR and exome sequencing of RFC1 for diagnostic testing of suspectedCANVAS patients
Helena Jaklič, Ivana Babić Božović, Borut Peterlin, Anja Kovanda, Anja Kovanda
Kratki znanstveni prispevek
Oznake: CANVAS;cerebellar ataxia neuronopathy vestibular areflexia syndrome;clinical genetics;
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is causedby biallelic pathogenic expansions, or compound heterozygosity with other patho-genic variants in the RFC1 gene. CANVAS is estimated to be underdiagnosed, bothbecause of the lack of formal diagnostic criteria and mole ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys
Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin
Izvirni znanstveni članek
Oznake: gelsolin mayloidosis;Meretoja syndrome;GSN;cutis laxa;heart arrhythmia;lattice corneal dystrophy;optic neuropathy;optical coherence tomography;
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Gospodarski razvoj in konkurenčnost Bele krajine
Helena Konda, Marko Jaklič
Diplomsko delo
Oznake: Slovenija;ekonomska politika;regionalna politika;regije;regionalni razvoj;ekonomski razvoj;ekonomska rast;konkurenčnost;analiza;
Gospodarski razvoj in konkurenčnost Bele krajine
Leto: 2003 Vir: Ekonomska fakulteta (UL EF)
Št. zadetkov: 3
Ključne besede:
Leto izdaje:
Avtorji:
Repozitorij:
Tipologija:
Jezik: