Nurten Akarsu

Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, T. Horikoshi, Simon J. H. Heaney et al. · Proceedings of the National Academy of Sciences · 2002 · 456 citations · Full text

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Ivaylo Stoilov, Nurten Akarsu, Ihuoma Alozie et al. · The American Journal of Human Genetics · 1998 · 392 citations · Full text

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho et al. · The American Journal of Human Genetics · 2010 · 312 citations · Full text

Sclerostin, Developmental Biology, Bone Morphogenic Protein +7

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Hans van Bokhoven, Jacopo Celli, Hülya Kayserili et al. · Nature Genetics · 2000 · 270 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada, Caroline Andrews, Wai‐Man Chan et al. · Nature Genetics · 2003 · 260 citations

Extraocular Muscles, Congenital Fibrosis, Fibrosis +9