Authors:
Li, Shouling
Tiab, Leila
Jiao, Xiaodong
Munier, Francis L.
Zografos, Leonidas
Frueh, Béatrice
Sergeev, Yuri
Smith, Janine
Rubin, Benjamin
Meallet, Mario A.
Forster, RIchard K.
Hejtmancik, Fielding J.
Schorderet, Daniel F.
Citation: Li, Shouling et al., Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy, American journal of human genetics , 77(1), 2005, pp. 54-63
Authors:
Abouzeid, Hana
Boisset, Gaëlle
Favez, Tatiana
Youssef, Mohamed
Schorderet, Daniel F.
Citation: Abouzeid, Hana et al., Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 92-98
Authors:
Zeitz, Christina
Kloeckener-Gruissem, Barbara
Forster, Ursula
Kohl, Susanne
Magyar, István
Wissinger, Bernd
Mátyás, Gábor
Borruat, François-Xavier
Schorderet, Daniel F.
Zrenner, Eberhart
Munier, Francis L.
Berger, Wolfgang
Citation: Zeitz, Christina et al., Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness, American journal of human genetics , 79(4), 2006, pp. 657-667
Authors:
Li, Anren
Jiao, Xiaodong
Munier, Francis L.
Schorderet, Daniel F.
Yao, Wenliang
Iwata, Fumino
Hayakawa, Mutsuko
Kanai, Atsushi
Chen, Muh Shy
Lewis, Richard Alan
Heckenlively, John
Weleber, Richard G.
Traboulsi, Elias I.
Zhang, Qingjiong
Xiao, Xueshan
Kaiser-Kupfer, Muriel
Sergeev, Yuri V.
Fielding Hejtmancik, J.
Citation: Li, Anren et al., Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2, American journal of human genetics , 74(5), 2004, pp. 817-826