An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation

by Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu
Published 2018-01-01

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

by Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay
Published 2015-01-01

Detection of <italic>SHOX</italic> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

by Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu
Published 2020-12-01

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

by Hale Tuhan, MD, Ayhan Abaci, MD, Ayca Aykut, MD, Ahmet Anik, MD, Hüseyin Onay, MD, Ece Bober, MD
Published 2016-01-01

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

by Necil Kutukculer, Ezgi Topyildiz, Afig Berdeli, Burcu Guven Bilgin, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Guzide Aksu, Neslihan Edeer Karaca
Published 2021-04-01

Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C

by Sezer Acar, Hale Tuhan, Korcan Demir, Ayça Aykut, Asude Durmaz, Ünal Utku Karaarslan, Gözde İnci, Oğuz Ateş, Ece Böber, Ayhan Abacı
Published 2018-03-01

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogo...

by Asude Durmaz, Ayça Aykut, Tahir Atik, Samim Özen, Durdugül Ayyıldız Emecen, Aysun Ata, Esra Işık, Damla Gökşen, Özgür Çoğulu, Ferda Özkınay
Published 2021-03-01

Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

by Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu
Published 2018-03-01

Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

by Biray Erturk, Emin Karaca, Ayca Aykut, Burak Durmaz, Ahmet Guler, Baris Buke, Ahmet Ozgur Yeniel, Ahmet Mete Ergenoglu, Ferda Ozkinay, Mehmet Ozeren, Mert Kazandi, Fuat Akercan, Sermet Sagol, Cumhur Gunduz, Ozgur Cogulu
Published 2016-01-01

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

by Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Published 2020-12-01