-
1دورية أكاديمية
المؤلفون: Gülay Karagüzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazıl Orhan
المصدر: JCRPE, Vol 14, Iss 3, Pp 361-365 (2022)
مصطلحات موضوعية: immune dysregulation polyendocrinopathy enteropathy x-linked syndrome, neonatal diabetes, renal disease, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Murat Cakir, Elif Sag, Burcu Guven, Ulas Emre Akbulut, Fatma Issi, Alper Han Cebi, Thomas Müller, Denise Aldrian, Andreas R. Janecke
المصدر: Pediatrics and Neonatology, Vol 62, Iss 6, Pp 612-619 (2021)
مصطلحات موضوعية: congenitaldiarrheal disorders, genetics, mutation, panel sequencing, whole-exome sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Ulas Emre Akbulut, Hamdi Cihan Emeksiz, Senol Citli, Alper Han Cebi, Hatice Ayca Ata Korkmaz, Gaye Baki
المصدر: Jornal de Pediatria (Versão em Português), Vol 95, Iss 3, Pp 350-357 (2019)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
المصدر: Van Tıp Dergisi, Vol 26, Iss 2, Pp 265-267 (2019)
مصطلحات موضوعية: cerebrotendinous xanthomatosis, cyp27a1 gene, polyneuropathy, xanthomas, Medicine
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Guven Burcu, Emanuele Bellacchio, Elif Sag, Alper Han Cebi, Ismail Saygin, Aysenur Bahadir, Guldal Yilmaz, Marialuisa Corbeddu, Murat Cakir, Francesco Callea
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 14, p 5139 (2020)
مصطلحات موضوعية: fibrinogen storage disease, Fibrinogen Trabzon, molecular modelling, folding free energy change, genetics, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
6
المؤلفون: Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, Rahsan Inan, Oguzhan Yarali, Alper Han Cebi, Yasemin Akin
المصدر: neurogenetics. 23:213-221
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Charcot-Marie-Tooth Disease, Mutation, Genetics, Humans, Proteins, Myelin P0 Protein, Axons, Genetics (clinical)
-
7
المؤلفون: Ayberk Turkyilmaz, Ceren Alavanda, Esra Arslan Ates, Bilgen Bilge Geckinli, Hamza Polat, Mehmet Gokcu, Taner Karakaya, Alper Han Cebi, Mehmet Ali Soylemez, Ahmet İlter Guney, Pinar Ata, Ahmet Arman
المصدر: J Assist Reprod Genet
مصطلحات موضوعية: Adult, Chromosome Aberrations, Obstetrics and Gynecology, General Medicine, Primary Ovarian Insufficiency, Fragile X Mental Retardation Protein, Reproductive Medicine, Karyotyping, Mutation, Exome Sequencing, Genetics, Humans, Female, Genetics (clinical), Developmental Biology
-
8
المؤلفون: Elif Sağ, Alper Han Cebi, Sefa Sağ, Murat Cakir, Burcu Güven, Hatice Sonay Yalçin, Yakup Arslan, Elif Bahat Özdoğan, İlker Eyüpoğlu
المصدر: Volume: 14, Issue: 5 391-395
Türkiye Çocuk Hastalıkları Dergisiمصطلحات موضوعية: Gynecology, General and Internal Medicine, medicine.medical_specialty, business.industry, Child,Fibrocytis,Liver, medicine, business, Çocuk,karaciğer,fibrokistik, Genel ve Dahili Tıp
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c8fbb53b0b2451765a4f58f1ab3444
https://doi.org/10.12956/tchd.662772 -
9
المؤلفون: Ferhat Demir, Mukaddes Kalyoncu, Alper Han Cebi
المصدر: Arch Rheumatol
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Familial Mediterranean fever, Mean age, Plasma levels, Disease, Candidate mirnas, medicine.disease, Gastroenterology, Pathogenesis, Rheumatology, Internal medicine, medicine, Original Article, In patient, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3def7584ec5032e451d502a2822df9fe
https://doi.org/10.5606/archrheumatol.2020.7414 -
10
المؤلفون: Alper Han Cebi, Şule Altıner
المصدر: Molecular Syndromology. 11:197-206
مصطلحات موضوعية: NEDD4L, 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, Microarray analysis techniques, 030305 genetics & heredity, Chromosome, Retrospective cohort study, medicine.disease, Single Center, 03 medical and health sciences, Speech delay, Intellectual disability, Genetics, medicine, Copy-number variation, medicine.symptom, business, Genetics (clinical), 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1fc8ecaa75f43a373ecea1147bef076
https://doi.org/10.1159/000509645