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1
المؤلفون: Dilek Gunes, Ozlem Kalaycik Sengul, Leyli Senturk
المصدر: Journal of Pediatric Endocrinology and Metabolism.
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::988f98be92c5bda12495a37823eb067f
https://doi.org/10.1515/jpem-2023-0053 -
2
المؤلفون: Tugba Sarac Sivrikoz, Tugba Kalayci, Leyli Senturk, Volkan Karaman, Ibrahim Halil Kalelioglu, Recep Has, Hulya Kayserili, Zehra Oya Uyguner, Gen Nishimura, Umut Altunoglu
المصدر: Prenatal diagnosisREFERENCES. 42(12)
مصطلحات موضوعية: Pregnancy, Prenatal Diagnosis, Micrognathism, Obstetrics and Gynecology, Humans, Female, Autopsy, Radiology, Genetics (clinical), Osteosclerosis, Ultrasonography, Prenatal, Retrospective Studies
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3
المؤلفون: Elif Yilmaz Gulec, Gozde Tutku Turgut, Alper Gezdirici, Volkan Karaman, Fatma Nihal Ozturk, Sahin Avci, Tugba Kalayci, Leyli Senturk, Akif Ayaz, Hulya Kayserili, Zehra Oya Uyguner, Umut Altunoğlu
المصدر: Clinical geneticsREFERENCES. 102(3)
مصطلحات موضوعية: Arthrogryposis, Turkey, Facies, Dysphagia, Crisponi/Cold-Induced Sweating Syndrome (CS/CISS), Autoantigens, Episodic Hyperthermia, Death, Sudden, Cold-Induced Sweating, Genetics, Humans, Hyperhidrosis, Trismus, CRLF1, KLHL7, Receptors, Cytokine, Hand Deformities, Congenital, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Çağrı Cumhur Gök, Özge Kaynar, Leyli Şentürk, Emrah Can, Şahin Hamilçıkan
المصدر: Bagcilar Medical Bulletin, Vol 8, Iss 1, Pp 103-106 (2023)
مصطلحات موضوعية: bartter syndrome, bsnd gene, neonate, preterm, Medicine
وصف الملف: electronic resource
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5
المؤلفون: Anna Altmann, Lina Basel-Vanagaite, Olga Calabrese, Katalin Szakszon, Guntram Borck, Rüstem Yilmaz, Marianne McGuire, Umut Altunoglu, Suneeta Madan-Khetarpal, Leyli Senturk
المصدر: American journal of medical genetics. Part A. 176(1)
مصطلحات موضوعية: 0301 basic medicine, Diagnostic Imaging, medicine.medical_specialty, Microcephaly, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Limb Deformities, Congenital, Upslanted palpebral fissure, Kaufman oculocerebrofacial syndrome, 03 medical and health sciences, Genetic Heterogeneity, Intellectual Disability, Intellectual disability, Genetics, Medicine, Humans, Eye Abnormalities, Child, Genetics (clinical), Genetic Association Studies, business.industry, Genetic heterogeneity, Facies, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, Short palpebral fissure, medicine.disease, Dermatology, Blepharophimosis, 030104 developmental biology, Phenotype, Anteverted nares, Mutation, Female, business, Biomarkers