Zehra Oya Uyguner

Mutations in different components of FGF signaling in LADD syndrome

Edyta Rohmann, Han G. Brunner, Hülya Kayserili et al. · Nature Genetics · 2006 · 207 citations

Developmental Biology, Mendelian Disorder, Human Growth +7

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Emmanuelle Szenker‐Ravi, Umut Altunoğlu, Marc Leushacke et al. · Nature · 2018 · 190 citations

Signal Transduction, Molecular Physiology, Developmental Biology +6

ALX4 dysfunction disrupts craniofacial and epidermal development

Hülya Kayserili, Elif Uz, Carien M. Niessen et al. · Human Molecular Genetics · 2009 · 120 citations · Full text

Homozygous and heterozygous inheritance of <i>PAX3</i> mutations causes different types of Waardenburg syndrome

Bernd Wollnik, Turgut Tükel, Zehra Oya Uyguner et al. · American Journal of Medical Genetics Part A · 2003 · 79 citations

Genetics, Pathology, Heterozygous Inheritance +16

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

Mendelian Disorder, Genetic Disorder, Genetics +13