-
1
المؤلفون: Büşranur, Çavdarlı, Özlem Yayici, Köken, Saide Betül Arslan, Satılmış, Şule, Bilen, Didem, Ardıçlı, Ahmet Cevdet, Ceylan, Cavidan Nur Semerci, Gündüz, Haluk, Topaloğlu
المصدر: Annals of Human Genetics. 87:104-114
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
2
المؤلفون: Özlem Anlaş, Akgün Ölmez, Birsen Karaman, Füsun Düzcan, Selçuk Yüksel, Funda Tümkaya, Gülseren Bağcı, Cavidan Nur Semerci Gündüz
مصطلحات موضوعية: Partial Monosomy 18q, Paracentric inversion, Short Arm, Array CGH, C-banding, Deletion, Phenotype, FISH, Genetics, Duplication-Deficiency, Pericentric-Inversion, Dicentric chromosome 18, Partial Trisomy 18p, Insertion, Genetics (clinical)
-
3
المؤلفون: Cavidan Nur Semerci Gündüz, Gülseren Bağci, Kanay Yararbas, Gokhan Ozan Cetin, Füsun Düzcan, Özlem Anlaş, Akif Ayaz
المصدر: Pamukkale Medical Journal.
مصطلحات موضوعية: business.industry, 010102 general mathematics, Karyotype, Micropenis, Anatomy, medicine.disease, 01 natural sciences, Blepharophimosis, 03 medical and health sciences, 0302 clinical medicine, Chromosome 4, Ptosis, dup, Gene duplication, medicine, 030212 general & internal medicine, 0101 mathematics, medicine.symptom, Hypertelorism, business
-
4
المؤلفون: Gokhan Ozan Cetin, Menekşe Öztürk, Selcan Zeybek, Bilge Sarikepe, Gulseren Bagci, Cavidan Nur Semerci Gündüz, Özlem Anlaş, Nuran Sabir, Bayram Özhan, Burcu Albuz
المصدر: Clinical dysmorphology. 29(1)
مصطلحات موضوعية: Spondyloepiphyseal dysplasia, medicine.medical_specialty, Turkey, Turkish, media_common.quotation_subject, Nonsense, Nonsense mutation, sulfotransferase, Osteochondrodysplasias, Pathology and Forensic Medicine, carbohydrate sulfotransferases, chondrodysplasia, turkey (bird), medicine, case report, stop codon, Humans, genetics, human, Child, Genetics (clinical), media_common, child, business.industry, General Medicine, Dermatology, language.human_language, female, Codon, Nonsense, Pediatrics, Perinatology and Child Health, language, pathology, Female, Anatomy, Sulfotransferases, business