Abdullah Üzümcü

Mutations in different components of FGF signaling in LADD syndrome

Edyta Rohmann, Han G. Brunner, Hülya Kayserili et al. · Nature Genetics · 2006 · 209 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the<i>lipoma HMGIC fusion partner-like 5 (LHFPL5)</i>gene cause autosomal recessive nonsyndromic hearing loss

Ersan Kalay, Yun Li, Abdullah Üzümcü et al. · Human Mutation · 2006 · 71 citations

Life Sciences, Genetics, Molecular Genetics +16

<i>MYO15A</i> (<i>DFNB3</i>) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

Ersan Kalay, Abdullah Üzümcü, Elmar Krieger et al. · American Journal of Medical Genetics Part A · 2007 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A mutation in the signal sequence of<i>LRP5</i>in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

Boi-Dinh Chung, Hülya Kayserili, Minrong Ai et al. · Human Mutation · 2009 · 31 citations

Life Sciences, Genetics, Molecular Genetics +10

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

Abdullah Üzümcü, Birsen Karaman, Güven Toksoy et al. · European Journal of Medical Genetics · 2009 · 18 citations

Life Sciences, Genetics, Molecular Genetics +13