Browsing eNauka
Browsing by Author Bertini, Enrico
Showing results 1 to 3 of 3
Issue Date | Title | Author(s) | Type | М-cat. |
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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
![]() | Article | Mp. category will be shown later |
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
![]() ![]() | Article | 22M22 |
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
![]() ![]() | Article | 21M21 |