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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: zara f. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.
Viassolo V, Previtali SC, Schiatti E, Magnani G, Minetti C, Zara F, Grasso M, Dagna-Bricarelli F, Di Maria E. Viassolo V, et al. Among authors: zara f. Clin Genet. 2008 Jul;74(1):54-60. doi: 10.1111/j.1399-0004.2008.00984.x. Epub 2008 Mar 12. Clin Genet. 2008. PMID: 18341608
[Epilepsy genetics and genetic epilepsies].
Striano P, Bianchi A, Zara F, Minetti C. Striano P, et al. Among authors: zara f. Minerva Pediatr. 2011 Jun;63(3):217-25. Minerva Pediatr. 2011. PMID: 21654601 Italian.
Genome search for susceptibility loci of common idiopathic generalised epilepsies.
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenité DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A. Sander T, et al. Among authors: zara f. Hum Mol Genet. 2000 Jun 12;9(10):1465-72. doi: 10.1093/hmg/9.10.1465. Hum Mol Genet. 2000. PMID: 10888596
509 results