Kıvanç Çefle

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Katrin Friedrich, Lin Lee, Dru F. Leistritz et al. · Human Genetics · 2010 · 101 citations · Full text

Unusual Intronic Mutations, Somatic Variant, Mendelian Disorder +10

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Christine P. Diggle, David Parry, Clare V. Logan et al. · Human Mutation · 2012 · 95 citations · Full text

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Elena Bonora, Francesca Bianco, Lina Cordeddu et al. · Gastroenterology · 2015 · 80 citations · Full text

Chronic Intestinal Pseudo-obstruction, Gastroenterology, Pathology +7

Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male

Alessandra Baumer, Malgorzata Taralczak, Kıvanç Çefle et al. · Cytogenetic and Genome Research · 2007 · 79 citations · Full text

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

Yavuz Bayram, Janson J. White, Nursel Elçioğlu et al. · The American Journal of Human Genetics · 2017 · 58 citations · Full text

Fibrosis, Mendelian Disorder, Genetics +3