Ozlem Akgun-Dogan - Acıbadem Mehmet Ali Aydınlar Universitesi

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论文共 66 篇作者统计合作学者相似作者

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Metabolic and Other Morbid Complications in Congenital Generalized Lipodystrophy Type 4

Gulcin Akinci,Saif Alyaarubi,Nivedita Patni,Nadia Alhashmi,Azza Al-Shidhani,Flavia Prodam,Nancy Gagne,Funmbi Babalola,Aisha Al Senani,Kavitha Muniraj,Solaf M. Elsayed,Marianna Beghini,Basak Ozgen Saydam,Moosa Allawati,Madhumati S. Vaishnav, Ender Can,Ilgin Y. Simsir,Ekaterina Sorkina,Fatma Dursun,Clemens Kamrath,Umit Cavdar,Partha P. Chakraborty,Ozlem Akgun Dogan, Aliya Al Hosin, Ashwaq Al Maimani, Nil Comunoglu, Ahmed Hamed, Tea Huseinbegovic,Thomas Scherer,Jacqueline Curtis,Rebecca J. Brown,Vinaya Simha,Martin Wabitsch,Beyhan Tuysuz,Haluk Topaloglu,Elif A. Oral,Baris Akinci,Abhimanyu Garg

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 6 (2024)

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A Rare Disease: ZAP70 Deficiency

Seher Erdogan, Selen Ceren Cakmak,Gurkan Atay,Canan Hasbal Akkus,Burcu Karakayali,Ozlem Akgun Dogan,Betul Sozeri

İstanbul Kuzey Klinikleripp.167-170, (2024)

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Implication of Transcription Factor FOXD2 Dysfunction in Syndromic Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

Korbinian M. Riedhammer,Thanh-Minh T. Nguyen,Can Kosukcu,Julia Calzada-Wack,Yong Li,Nurit Assia Batzir,Seha Saygili, Vera Wimmers,Gwang-Jin Kim, Marialena Chrysanthou,Zeineb Bakey,Efrat Sofrin-Drucker,Markus Kraiger,Adrian Sanz-Moreno,Oana V. Amarie,Birgit Rathkolb,Tanja Klein-Rodewald,Lillian Garrett,Sabine M. Hoelter,Claudia Seisenberger,Stefan Haug,Pascal Schlosser,Susan Marschall,Wolfgang Wurst,Helmut Fuchs,Valerie Gailus-Durner,Matthias Wuttke,Martin Hrabe de Angelis,Jasmina Comic,Ozlem Akgun Dogan,Yasemin Ozluk,Mehmet Tasdemir,Ayse Agbas,Nur Canpolat,Naama Orenstein,Salim Caliskan,Ruthild G. Weber,Carsten Bergmann,Cecile Jeanpierre,Sophie Saunier,Tze Y. Lim,Friedhelm Hildebrandt,Bader Alhaddad,Lina Basel-Salmon,Yael Borovitz,Kaman Wu,Dinu Antony,Julia Matschkal,Christian W. Schaaf,Lutz Renders,Christoph Schmaderer,Manuel Rogg,Christoph Schell,Thomas Meitinger,Uwe Heemann,Anna Koettgen,Sebastian J. Arnold,Fatih Ozaltin,Miriam Schmidts,Julia Hoefele

KIDNEY INTERNATIONALno. 4 (2024): 844-864

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Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

Fatma Güliz Atmaca,Özlem Akgün Doğan,Büşra Kutlubay,Heves Kırmızıbekmez

Journal of clinical research in pediatric endocrinology（2024）

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Impact of Deep Phenotyping: High Diagnostic Yield in a Diverse Pediatric Population of 172 Patients Through Clinical Whole-Genome Sequencing at a Single Center

Ozlem Akgun-Dogan, Ecenur Tuc Bengur,Beril Ay, Gulsah Sebnem Ozkose, Emre Kar,Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin,Fatma Nisa Esen,Ozkan Ozdemir,Ahmet Yesilyurt,Yasemin Alanay

Frontiers in Genetics (2024)

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A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity Assessment

Eylul Aydin, Berk Ergun,Ozlem Akgun-Dogan,Yasemin Alanay,Ozden Hatirnaz Ng,Ozkan Ozdemir

biorxiv（2024）

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Rapid Genome Sequencing for Critically Ill Infants: an Inaugural Pilot Study from Turkey

Bengisu Guner Yilmaz,Ozlem Akgun-Dogan,Ozkan Ozdemir,Bayram Yuksel,Ozden Hatirnaz Ng,Kaya Bilguvar,Beril Ay, Gulsah Sebnem Ozkose, Eylul Aydin, Ayca Yigit, Aybike Bulut,Fatma Nisa Esen,Serdar Beken,Selma Aktas,Atalay Demirel,Baran Cengiz Arcagok,Ebru Kazanci, Ibrahim Bingol,Ozge Umur,Guntulu Sik, Ugur Isik,Melike Ersoy,Ayse Korkmaz,Agop Citak,Adil Mardinoglu,Ugur Ozbek,Yasemin Alanay

FRONTIERS IN PEDIATRICS (2024)

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Magnetic Resonance Imaging Based Kidney Volume Assessment for Risk Stratification in Pediatric Autosomal Dominant Polycystic Kidney Disease

Kubra Yilmaz,Seha Saygili,Nur Canpolat,Ozlem Akgun-Dogan,Zeynep Nagehan Yuruk Yildirim, Rumeysa Yasemin Cicek-Oksuz,Huseyin Adil Oner,Bagdagul Aksu,Nazli Gulsum Akyel, Ozge Oguzhan-Hamis,Hasan Dursun,Sevgi Yavuz,Neslihan Cicek,Nurver Akinci,Esra Karabag Yilmaz,Ayse Agbas,Ahmet Nevzat Nayir,Dildar Konukoglu,Sebuh Kurugoglu,Lale Sever,Salim Caliskan

Frontiers in Pediatrics (2024)

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Pushing the Boundaries of Rare Disease Diagnostics with the Help of the First Undiagnosed Hackathon

Angelica Maria Delgado-Vega,Helene Cederroth,Fulya Taylan,Katja Ekholm,Marlene Ek,Håkan Thonberg,Anders Jemt,Daniel Nilsson,Jesper Eisfeldt,Kristine Bilgrav Saether,Ida Höijer,Ozlem Akgun-Dogan, Yui Asano,Tahsin Stefan Barakat,Dominyka Batkovskyte,Gareth Baynam,Olaf Bodamer,Wanna Chetruengchai, Pádraic Corcoran,Madeline Couse,Daniel Danis,German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna,Toyofumi Fujiwara, Neha Garg, Roberto Giugliani,Claudia Gonzaga-Jauregui,Giedre Grigelioniene,Tudor Groza,Cecilia Gunnarsson,Anna Hammarsjö, Charles Kumi Hammond,Özden Hatirnaz Ng, Sirisha Hesketh,Dineshani Hettiarachchi,Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg,Malin Kvarnung,Oleg Kvlividze,Kristina Lagerstedt-Robinson,Paul Lasko,Timo Lassmann, Lynette Y S Lau,Steven Laurie,Weng Khong Lim,Zhandong Liu,Mariya Lysenkova Wiklander,Prince Makay, Alassane Baneye Maiga,Carolina Maya-González,M Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren,Jessica Nordlund, Sara Orrsjö,Jesper Ottosson,Ugur Ozbek,Özkan Özdemir,Clyde Partin,David A Pearce, Raquel Peck, Annie Pedersen,Maria Pettersson,Monnat Pongpanich,Manuel Posada de la Paz,Arun Ramani, Juan Andres Romero,Vanessa I Romero,Richard Rosenquist, Aung Min Saw, Matthew Spencer,Eva-Lena Stattin,Chalurmpon Srichomthong,Isabel Tapia-Paez,Domenica Taruscio,Julie P Taylor,Tinatin Tkemaladze, Ian Tully,Zeynep Tümer, Wendy A G van Zelst-Stams,Alain Verloes, Emma Västerviga,Sailan Wang, Rachel Yang,Shinya Yamamoto,Vicente A Yépez, Qing Zhang,Vorasuk Shotelersuk,Samuel Agyei Wiafe,Yasemin Alanay,Lorenzo D Botto,Salman Kirmani,Aimé Lumaka,Elizabeth Emma Palmer,Ratna Dua Puri,Valtteri Wirta,Anna Lindstrand,Orion J Buske, Mikk Cederroth,Ann Nordgren

Nature geneticsno. 11 (2024): 2287-2294

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Biallelic copy number variations in both upstream & downstream enhancers of SHOX gene causes mesomelia and clubfoot without short stature

Bengisu Guner Yilmaz,Saygin Abali,Azad Akberzade,Beril Ay,Sait Tumer,Ozlem Akgun Dogan,Gen Nishimura,Yasemin Alanay

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 127-127

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