A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation by Gönül Büyükyılmaz, Mihriban İnözü, Büşranur Çavdarlı

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Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants by Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı

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Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome by Deniz Torun, Mutluay Arslan, Büşranur Çavdarlı, Hatice Akar, David Stephen Cram

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Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency by Elif Soyak Aytekin, Deniz Çağdaş, Çağman Tan, Büşranur Çavdarlı, Işıl Bilgiç, İlhan Tezcan

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Severe isolated sulfide oxidase deficiency with a novel mutation by Meriç Ergene, Nuriye Yarar, Elif Perihan Öncel, Taner Sezer, Büşranur Çavdarlı, İsmail Zafer Ecevit, Halil İbrahim Aydın

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Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations by Muhammet Cüneyt Bilginer, Cevdet Aydın, Sevgül Fakı, Oya Topaloğlu, Hanife Saat, Buşranur Çavdarlı, Reyhan Ersoy, Bekir Çakır

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Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum by Ceren Günbey, Büşranur Çavdarlı, Rahşan Göçmen, Muharrem Yazıcı, Çağrı Mesut Temuçin, Özkan Özdemir, Sebahattin Çırak, Göknur Haliloğlu

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A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome by Mazhar Müslüm Tuna, Mehtap Navdar Başaran, Berçem Ayçiçek Doğan, Ersen Karakılıç, Büşranur Çavdarlı, Yasemin Tütüncü, Dilek Berker, Serdar Güler

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Leukemia: Reduction Ratio and Halving Time of BCR: : ABL1 IS Transcript Levels by Funda Ceran, Sema Akıncı, Mehmet Ali Uçar, Gülten Korkmaz, Mehmet Gündüz, Büşranur Çavdarlı, Şule Mine Bakanay, Mesude Falay, Simten Dağdaş, İmdat Dilek, Gülsüm Özet

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The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience by Dilek Kaçar, Büşranur Çavdarlı, Ayça Koca Yozgat, Melek Işık, Fatma Burçin Kurtipek, Fatma Tuba Yıldırım, Turan Bayhan, Dilek Gürlek Gökçebay, Namık Yaşar Özbek, Neşe Yaralı

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Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A singlecenter cohort study by Serdal Baştuğ, Büşranur Çavdarlı, Aliye Baştuğ, İrfan Şencan, Ebru Tunçez, Esra Yakışık Çakır, Nizamettin Kemirtlek, Cihad Sakar, Deniz Erdem, Gülay Güleç Ceylan, Işıl Özkoçak Turan, Sümeyye Kazancıoğlu, Hürrem Bodur

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