Sahin Avcı - Department of Medical Genetics, Koc University School of Medicine (KUSOM),

基本信息

浏览量：2

职业迁徙

个人简介

Sahin Avcı currently works at the Department of Medical Genetics (Istanbul Medical Faculty), Istanbul University. Sahin does research in Pediatrics, Obstetrics and Genetic Epidemiology. Their most recent publication is 'Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish Population and novel mutations in CYP11B1 gene'.

研究兴趣

论文共 64 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Clinical and Molecular Characteristics of 26 Fetuses with Lethal Multiple Congenital Contractures

Gozde Tutku Turgut,Umut Altunoglu,Cagri Gulec,Tugba Sarac Sivrikoz,Tugba Kalayci,Guven Toksoy,Sahin Avci, Behiye Tugce Yildirim,Gozde Yesil Sayin,Ibrahim Halil Kalelioglu,Birsen Karaman,Recep Has,Seher Basaran,Atil Yuksel,Hulya Kayserili,Zehra Oya Uyguner

CLINICAL GENETICSno. 6 (2024): 596-610

引用0浏览0WOS引用

Clinical and Molecular Characteristics of Patients with Fascio-scapulo-humeral Dystrophy 1 (FSHD 1): the First Cohort Investigating the Genotype-phenotype Characteristics of FSHD 1 Patients in Turkey (P3-11.019)

Gulshan Yunisova,Serpil Eraslan,Sahin Avci,İlker Eren,Mehmet Demirhan,Hulya Kayserili,Piraye Oflazer

Neurology（2024）

引用0浏览0引用

SNUPN Deficiency Causes a Recessive Muscular Dystrophy Due to RNA Mis-Splicing and ECM Dysregulation

Marwan Nashabat,Nasrinsadat Nabavizadeh,Hilal Pırıl Saraçoğlu,Burak Sarıbaş,Şahin Avcı,Esra Börklü,Emmanuel Beillard,Elanur Yılmaz, Seyide Ecesu Uygur,Cavit Kerem Kayhan,Luca Bosco, Zeynep Bengi Eren,Katharina Steindl,Manuela Friederike Richter,Guney Bademci,Anita Rauch,Zohreh Fattahi,Maria Lucia Valentino,Anne M. Connolly,Angela Bahr, Laura Viola,Anke Katharina Bergmann,Maria Eugenia Rocha,LeShon Peart, Derly Liseth Castro-Rojas,Eva Bültmann,Suliman Khan, Miriam Liliana Giarrana,Raluca Ioana Teleanu,Joanna Michelle Gonzalez,Antonella Pini,Ines Sophie Schädlich,Katharina Vill,Melanie Brugger,Stephan Zuchner,Andreia Pinto,Sandra Donkervoort,Stephanie Ann Bivona,Anca Riza,Ioana Streata,Dieter Gläser,Carolina Baquero-Montoya, Natalia Garcia-Restrepo,Urania Kotzaeridou,Theresa Brunet,Diana Anamaria Epure,Aida Bertoli-Avella,Ariana Kariminejad,Mustafa Tekin,Sandra von Hardenberg,Carsten G. Bönnemann,Georg M. Stettner,Ginevra Zanni,Hülya Kayserili,Zehra Piraye Oflazer,Nathalie Escande-Beillard

NATURE COMMUNICATIONS（2024）

引用0浏览0WOSNATURE引用

Identification of Germline Variants in 546 Breast/ Ovarian Cancer Families: Complementary Testing with Multigene NGS and MLPA Panels

Hilal Piril Saracoglu, Esra Borklu, Umut Altunoglu,Fatih Selcukbiricik,Kayhan Erturk,Dogan Vatansever,Levent Celik, Sahin Lacin, Didem Tunali,Sahin Avci,Orhan Agcaoglu,Hasan Karanlik, Can Atalay, Kerim Kaban,Ece Dilege,Cagatay Taskiran, Abdullah Igci,Nil Molinas Mandel,Serpil Eraslan, Hulya Kayserili

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 590-590

引用0浏览0引用

Comprehensive Genetic Testing in a Cohort of 67 Unrelated Retinal Dystrophy Patients of Turkish and Eastern European Descent

Ece Cepni, Umut Altunoglu, Esra Borklu, Serra Arf,Sahin Avci, Isil Sayman Muslubas,Mumin Hocaoglu,Murat Hasanreisoglu, Murat Karacorlu, Hulya Kayserili

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 380-380

引用0浏览0引用