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Преглед према Аутор Bertini, Enrico
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| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2015 | Altered PLP1 splicing causes hypomyelination of early myelinating structures | Kevelam, Sietske H.; Taube, Jennifer R.; van, Spaendonk Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A.;
Bernard, Geneviève; Catsman-Berrevoets, Coriene E.; van, Karnebeek Clara D. M.; Østergaard, John R.; Friederich, Richard L.; Fawzi, Elsaid Mahmoud; Schieving, Jolanda H.; Tarailo Graovac, Maja
 ; Orcesi, Simona; Steenweg, Marjan E.; van, Berkel Carola G. M.; Waisfisz, Quinten; Abbink, Truus E. M.; van, der Knaap Marjo S.; Hobson, Grace M.; Wolf, Nicole I.; | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 2021 | Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go (✓) | Dangouloff, Tamara; Vrščaj, Eva; Servais, Laurent; Osredkar, Damjan; Adoukonou, Thierry; Aryani, Omid; Barisic, Nina; Bashiri, Fahad; Bastaki, Laila; Benitto, Afaf;
Omran, Tawfeg Ben; Bernert, Guenther; Bertini, Enrico; Borde, Patricia; Born, Peter; Boustani, Rose-Mary; Butoianu, Nina; Castiglioni, Claudia; Catibusic, Feriha; Chan, Sophelia; Chien, Yin Hsiu; Christodoulou, Kyproula; Dejsuphong, Donniphat; Farrar, Michelle; Filip, Duma; Goemans, Nathalie; Guinhouya, Kokou; Haberlova, Jana; Hadzsiev, Kinga; Hovhannesyan, Kristine; Isohanni, Pirjo; Ivanovic Radovic, Nelica; Jacquier, David; Jalloh, Alusine; Jedrzejowska, Maria; Kandawasvika, Gwen; Kaputu, Celestin; Kawatu, Nfwama; Kernohan, Kristin; Kirschner, Jan; Klink, Barbara; Kodsy, Sherry; Kouame-Assouan, Ange-Eric; Kravljanac, Ružica
 ; Kreile, Madara; Litvinenko, Ivan; McMillan, Hugh; Mesa, Sandra; Mohamed, Inaam; Muaremoska Kanzoska, Liljana; Nevo, Yoram; Nguefack, Seraphin; Nkole, Kafula; O'Grady, Gina; O'Rourke, Declan; Oskoui, Maryam; Piazzon, Flavia; Poddighe, Dimitri; Prasauskiene, Audrone; Prieto, Juan; Rasmussen, Magnhild; Razafindrasata, Santara; Saha, Narayan; Saito, Kayoko; Sakadi, Foksouna; Sangare, Modibo; Schroth, Mary; Shalkevich, Leanid; Shatillo, Andriy; Suthar, Renu; Szabo, Lena; Tatishvili, Nana; Tazir, Meriem; Tizzano, Eduardo; Topaloglu, Haluk; Tulinius, Mar; van der Pol, Ludo; Vazquez, Gabriel; Vlodavets, Dimitry; Wanigasinghe, Jithangi; Wilmshurst, Jo; Xiong, Hui; Zafeiriou, Dimitrios; Zamba, Eleni; | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
| 2014 | TMEM70 deficiency: long-term outcome of 48 patients | Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph;
Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; Konstantopoulou, Vassiliki; Smet, Joél; Rahman, Shamima; Broomfield, Alexander; Stojanović, Vesna
; Dionisi-Vici, Carlo; van, Coster Rudy; Morava-Kozicz, Eva; Sperl, Wolfgang; Zeman, Jiri; Honzik, Tomas; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |