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The Turkish Journal of Pediatrics|November 2, 2017
Familial mutation in Caffey disease with reduced penetrance: A case reportÖzmert M A Özdemir, Hazal Tancer-Elçi, Aziz Polat, et al.Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion|November 5, 2016
Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern TurkeyOzge Ozalp Yuregir, Akif Ayaz, Sinem Yalcintepe, et al.Clinical Genetics|December 11, 2024
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish CohortAyberk Turkyilmaz, Safiye Gunes Sager, Kerem Terali, et al.Journal of Pediatric Hematology/Oncology|May 15, 2024
Clinical and Immunologic Features of a Patient With Homozygous FNIP1 VariantSelami Ulaş, Sezin Naiboğlu, İsa Özyilmaz, et al.Neurology India|January 9, 2026
An Overview of Drug-Resistant Epilepsies Based on Advances in Genetics: A Cohort StudyBetül Kılıç, Yasemin Topçu, Akif Ayaz, et al.Turkish Archives of Pediatrics|July 13, 2022
Clinical, Genetic, and Outcome Characteristics of Pediatric Patients with Primary Hemophagocytic LymphohistiocytosisSerdar Nepesov, Yöntem Yaman, Murat Elli, et al.Clinical Genetics|June 14, 2022
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from TurkeyElif Yilmaz Gulec, Gozde Tutku Turgut, Alper Gezdirici, et al.Journal of Pediatric Genetics|August 1, 2024
A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: <i>RASA3</i>Akif Ayaz, Zeynep Doğru, Kıvanç Kök, et al.European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.Clinical Neurology and Neurosurgery|December 29, 2022
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndromeTuğçe Aksu Uzunhan, Biray Ertürk, Kürşad Aydın, et al.Pageof 4