खोज परिणाम - Kıvanç Çefle
- प्रदर्शित 1 - 5 परिणाम 5
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1
Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes द्वारा Shahrashoub Sharifi, Murat Dursun, Ayla Şahin, Serdar Turan, Ayşe Altun, Özden Özcan, Arif Kalkanlı, Kıvanç Çefle, Şükrü Öztürk, Şükrü Palanduz, Ateş Kadıoğlu
प्रकाशित 2025Artigo -
2
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis द्वारा Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski
प्रकाशित 2017Artigo -
3
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction द्वारा Elena Bonora, Francesca Bianco, Lina Cordeddu, Michael J. Bamshad, Ludmila Francescatto, Dustin Dowless, Vincenzo Stanghellini, Rosanna Cogliandro, Greger Lindberg, Zeynel Mungan, Kıvanç Çefle, Tayfun Özçelık, Şükrü Palanduz, Şükrü Öztürk, Asuman Gedikbaşı, Alessandra Gori, Tommaso Pippucci, Claudio Graziano, Umberto Volta, Giacomo Caio, Giovanni Barbara, Mauro D’Amato, Marco Seri, Nicholas Katsanis, G. Cara Romeo, Roberto De Giorgio
प्रकाशित 2015Artigo -
4
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations द्वारा Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María José García-F-Villalta, Carolien M. Kets, Joerg Schmidtke, Vítor Tedim Cruz, Peter C. van den Akker, Joseph Boak, Dincy Peter, Goli Compoginis, Kıvanç Çefle, Şükrü Öztürk, Norberto López, Theda Wessel, Martin Poot, P.F. Ippel, Birgit Groff-Kellermann, Holger Hoehn, George M. Martin, Christian Kubisch, Junko Oshima
प्रकाशित 2010Artigo -
5
<i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects द्वारा Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima
प्रकाशित 2016Revisão
खोज साधन:
संबंधित विषय
Biology
Gene
Genetics
Mutation
Bioinformatics
Exon
Helicase
Phenotype
RNA
Werner syndrome
Allele
Azoospermia
Context (archaeology)
DNA polymerase
DNA repair
Exome sequencing
Exonuclease
Founder effect
Genetic testing
Germline
Germline mutation
Haplotype
Human genetics
Infertility
Locus (genetics)
Male infertility
Medicine
Messenger RNA
Missense mutation
Molecular biology