Kıvanç Çefle - Concepedia

Author

Kıvanç Çefle

Istanbul University ORCID

Also Known As

K CEFLE, K Cefle, K Çefle, K. CEFLE, K. Cefle, K. Çefle, KIVANÇ CEFLE, Kivanc Cefle, Kivanç Cefle, Kivanç Çefle

110

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

Istanbul University Koç University University of Pavia University of Bologna Haseki Eğitim ve Araştırma Hastanesi

KÇ

About

Kıvanç Çefle is an author at Istanbul University specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	381
2	Health Sciences	1	1	11
3	Public Health	1	1	16
4	Biochemistry	1	1	17
5	Diabetes	1	1	17

Kıvanç Çefle

Publications

891

Citations

H-Index

Page 1

	Year	Citations
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Katrin Friedrich, Lin Lee, Dru F. Leistritz, Human Genetics Unusual Intronic MutationsSomatic VariantMendelian DisorderGenetic DisorderGenetics	2010	101
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis Christine P. Diggle, David Parry, Clare V. Logan, Human Mutation	2012	95
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction Elena Bonora, Francesca Bianco, Lina Cordeddu, Gastroenterology Chronic Intestinal Pseudo-obstructionGastroenterologyPathologyClinical GastroenterologyGastrointestinal Pathology	2015	80
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, Cytogenetic and Genome Research	2007	79
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis Yavuz Bayram, Janson J. White, Nursel Elçioğlu, The American Journal of Human Genetics FibrosisMendelian DisorderGeneticsPathologyMedicine	2017	58
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome Fatih Tufan, Kıvanç Çefle, Seval Türkmen, American Journal of Medical Genetics Part A	2005	39
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24 Alessia Deglincerti, Roberto De Giorgio, Kıvanç Çefle, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsGastroenterologyPathology	2007	38
Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families Monica Galliano, Monica Campagnoli, Antonio Rossi, Clinical Chemistry	2002	37
The Genotoxic Effects in Lymphocyte Cultures of Children Treated with Radiosynovectomy by Using Yttrium-90 Citrate Colloid Cüneyt Türkmen, Şükrü Öztürk, Seher Ünal, Cancer Biotherapy and Radiopharmaceuticals	2007	35
Monitoring the genotoxic effects of radiosynovectomy with Re‐186 in paediatric age group undergoing therapy for haemophilic synovitis Cüneyt Türkmen, Şükrü Öztürk, Serhat Ünal, Haemophilia	2006	32

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