Esra Isik (Esra Işık)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 10

Top Topics

Intellectual Disability

Dna Methylation

Subarachnoid Hemorrhage

Top Venues

American journal of medical genetics. Part A

European journal of haematology

Journal of clinical research in pediatric endocrinology

Annals of clinical biochemistry

This page only lists publications with an associated author ORCID identifier.

Publications

Esra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas, Mehmet Fatih Orhan, Nazan Sarper, Sultan Aydin Köker, Selma Unal, Yeşim Oymak, Nihal Karadaş, Ayşen Türedi Yıldırım, Davut Albayrak, Funda Tayfun Küpesiz, Deniz Tuğcu, Serap Karaman, Mahmut Töbü, Ekrem Ünal, Alper Ozcan, Sule Unal, Tekin Aksu, Ayşegül Ünüvar, Mustafa Bilici, Fatih Mehmet Azık, Yilmaz Ay, Sema Aylan Gelen, Emine Zengin, Esin Albudak, Ibrahim Eker, Taner Karakaya, Ozgur Cogulu, Ferda Özkınay, Tahir Atik
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis. European journal of haematology (2024)
Esra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas, Mehmet Fatih Orhan, Nazan Sarper, Sultan Aydin Köker, Selma Unal, Yeşim Oymak, Nihal Karadaş, Ayşen Türedi Yıldırım, Davut Albayrak, Funda Tayfun Küpesiz, Deniz Tuğcu, Serap Karaman, Mahmut Töbü, Ekrem Ünal, Alper Ozcan, Sule Unal, Tekin Aksu, Ayşegül Ünüvar, Mustafa Bilici, Fatih Mehmet Azık, Yilmaz Ay, Sema Aylan Gelen, Emine Zengin, Esin Albudak, Ibrahim Eker, Taner Karakaya, Ozgur Cogulu, Ferda Özkınay, Tahir Atik
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis. European journal of haematology 113 (1) (2024)
Ferda Evin, Esra Isik, Hüseyin Onay, Samim Özen, Şükran Darcan, Ruhsar Damla Gökşen Şimşek
ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control? Journal of pediatric endocrinology & metabolism : JPEM (2023)
Gokcen Karamik, Beyhan Tüysüz, Esra Isik, Aysegul Yilmaz, Yasemin Alanay, Evrim Cifci Sunamak, Enise Avci Durmusalioglu, Ferda Özkınay, Gökhan Ozan Çetin, Nuray Ozturk, Ercan Mihci, Banu Nur
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review. American journal of medical genetics. Part A (2023)
Mehmet Bilal Araci, Bilcag Akgun, Tahir Atik, Esra Isik, Gunes Ak, Burcu Barutcuoglu, Ferda Ozkinay
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations. Annals of clinical biochemistry 58 (4) (2021)
Esra Isik, Sanem Yilmaz, Tahir Atik, Gul Aktan, Huseyin Onay, Sarenur Gokben, Ferda Ozkinay
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 41 (12) (2020)
Esra Isik, Duygu Arican, Tahir Atik, Joo Enn Ooi, Şükran Darcan, Samim Özen, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Ozgur Cogulu, Ferda Özkınay
A rare cause of syndromic short stature: 3M syndrome in three families. American journal of medical genetics. Part A 185 (2) (2020)
Asude Alpman Durmaz, Ayça Aykut, Tahir Atik, Samim Özen, Durdugül Ayyıldız Emecen, Aysun Ata, Esra Isik, Ruhsar Damla Gökşen Şimşek, Ozgur Cogulu, Ferda Özkınay
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism Journal of clinical research in pediatric endocrinology 13 (1) (2020)
Esra Isik, Ozguc Semih Simsir, Asli Ece Solmaz, Huseyin Onay, Tahir Atik, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Ferda Ozkinay
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients. Annals of human genetics 84 (4) (2020)
Esra Isik, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Samim Özen, Ozgur Cogulu, Şükran Darcan, Ferda Özkınay
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia Journal of clinical research in pediatric endocrinology 12 (1) (2019)