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Преглед према Аутор Jordanova, Albena
Приказ резултата 1 до 7 од 7
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2016 | Compound Heterozygous Mutation in SGPL1 Causes Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 in a Serbian Family | Atkinson, Derek; Asselbergs, B; De, Vriendt Els; Ooms, T; Estrada-Cuzcano, A; Nikodinovic, Jelena; Milic-Rasic, Vedrana M; Jordanova, Albena | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2012 | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia | Zimoń, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De, Vriendt Els; Nikodinovic, Jelena; Parman, Yesim; Battaloǧlu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo;
Auer-Grumbach, Michaela; De, Rijk Peter; Petersen, Britt-Sabina; Müller, Thomas; Fransen, Erik; Van, Damme Philip; Löscher, Wolfgang N; Barišić, Nina; Mitrovic, Zoran; Previtali, Stefano C; Topaloǧlu, Haluk; Bernert, Günther; Beleza-Meireles, Ana; Todorovic, Slobodanka; Savić Pavićević, Dušanka
  ; Ishpekova, Boryana; Lechner, Silvia; Peeters, Kristien; Ooms, Tinne; Hahn, Angelika F; Züchner, Stephan; Timmerman, Vincent; Van, Dijck Patrick; Milić Rašić, Vedrana ; Janecke, Andreas R; De, Jonghe Peter; Jordanova, Albena; | Научни чланак | 21a+M21a+ - Водећи међународни часопис категорије M21a+ |
| 2022 | Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia | Perić, Stojan ; Marković, Vladana ; Candayan, Ayse; De Vriendt, Els; Momčilović, Nikola; Savić, Andrija; Dragašević-Mišković, Nataša ; Svetel, Marina ; Stević, Zorica ; Božović, Ivo ;
Mesaroš, Šarlota
; Drulović, Jelena ; Basta, Ivana ; Petrović, Igor ; Tamaš, Olivera; Mijajlović, Milija ; Novaković, Ivana ; Sokić, Dragoslav ; Jordanova, Albena; | Article | 21M21 |
| 2012 | Reconstructing the Population History of European Romani from Genome-wide Data | Mendizabal, Isabel; Lao, Oscar; Marigorta, Urko M.; Wollstein, Andreas; Gusmão, Leonor; Ferak, Vladimir; Ioana, Mihai; Jordanova, Albena; Kaneva, Radka; Kouvatsi, Anastasia;
Kučinskas, Vaidutis; Makukh, Halyna; Metspalu, Andres; Netea, Mihai G.; de Pablo, Rosario; Pamjav, Horolma; Radojković, Dragica
; Rolleston, Sarah J.H.; Sertic, Jadranka; Macek, Milan; Comas, David; Kayser, Manfred; | Naučni članak | 21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+ |
| 2017 | Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy | Atkinson, Derek; Nikodinovic-Glumac, Jelena; Asselbergh, Bob; Ermanoska, Biljana; Blocquel, David; Steiner, Regula; Estrada-Cuzcano, Alejandro; Peeters, Kristien; Ooms, Tinne; De, Vriendt Els;
Yang, Xiang-Lei; Hornemann, Thorsten; Milic-Rasic, Vedrana M; Jordanova, Albena;
| Naučni članak | 21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+ |
| 2014 | Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 | Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Milić-Rašić, Vedrana ; Baets, Jonathan;
Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolić, Miloš
; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G.; Taroni, Franco; Lunn, Michael P.; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G.; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzińska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M.; Houlden, Henry; | Научни чланак | 21a+M21a+ - Водећи међународни часопис категорије M21a+ |
| 2016 | Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families | Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur;
Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;
| Научни чланак | 21M21 - Водећи међународни часопис категорије M21 |