Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3

Por Korkmaz, Hüseyin Anıl, Hazan, Filiz, Dizdarer, Ceyhun, Tükün, Ajlan
Publicado em 2012

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1

Por Hazan, Filiz, Ozturk, A.Taylan, Adibelli, Hamit, Unal, Nurettin, Tukun, Ajlan
Publicado em 2013

A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus

Por Korkmaz, Hüseyin Anıl, Özkan, Behzat, Hazan, Filiz, Büyükinan, Muammer, Çelik, Tanju
Publicado em 2013

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Por Diniz, Gulden, Tosun Yildirim, Hulya, Gokben, Sarenur, Serdaroglu, Gul, Hazan, Filiz, Yararbas, Kanay, Tukun, Ajlan
Publicado em 2014

A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome

Por Hazan, Filiz, Karaca, Emin, Koker, Sultan Aydin, Korkmaz, Huseyin Anil, Mese, Timur, Onay, Huseyin, Ozkinay, Ferda
Publicado em 2013

The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy

Por Oner, Taliha, Ozdemir, Rahmi, Hazan, Filiz, Karadeniz, Cem, Doksoz, Onder, Yilmazer, Murat Muhtar, Mese, Timur, Tavli, Vedide
Publicado no Bosn J Basic Med Sci (2016)

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Por Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Publicado em 2012

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Por Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barbara, Petit, Florence, Coubes, Christine, Saul, Robert A, Brice, Glen, Gordon, Kristiana, Jeffery, Steve, Mortimer, Peter S, Vasudevan, Pradeep C, Mansour, Sahar
Publicado em 2014

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Por Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.
Publicado no Am J Hum Genet (2014)