A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2 von Sahin, Ibrahim, Saat, Hanife

Volltext

Expanding the genotype-phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers von Sahin, Ibrahim, Kandemir, Nefise, Saat, Hanife

Volltext

Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations von Sahin, Ibrahim, Erdem, Haktan B, Bahsi, Taha, Saat, Hanife

Volltext

Neurofibromatosis Type 1 Molecular Diagnosis in Turkish Patients von Bahsi,Taha, Saat,Hanife

Volltext

Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics von Cavnar Helvaci, Burcak, Saat, Hanife, Hepsen, Sema, Helvaci, Özant, Cakal, Erman

Volltext

Non-Invasive Cancer Genotyping: A Single-Center Experience on the Challenges, Limitations, and Methods von Şahin,İbrahim, Saat,Hanife, Erdem,Haktan Bağış, Bahsi,Taha

Volltext

Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy von Saat, Hanife, Şahin, İbrahim, Erdem, Haktan Bağış, Özgür, Senem, Terlemez Tokgöz, Semiha, Bahsi, Taha

Volltext

Mutation spectrum of hereditary myopathies in Turkish patients and novel variants von Saat, Hanife, Sahin, Ibrahim

Volltext

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

Volltext

Hereditary spastic paraplegia: new insights into clinical variability and spasticity–ataxia phenotype, and novel mutations von Sahin, Ibrahim, Saat, Hanife

Volltext

New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability von Sahin, Ibrahim, Saat, Hanife

Volltext

New Perspectives on the Recurrent BRCA Mutations and Clinical Variability von SAHIN, Ibrahim

Volltext

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations von SAAT, Hanife, SAHIN, Ibrahim, DUZKALE, Neslihan, GONUL, Muzeyyen, BAHSI, Taha

Volltext

O-07 Lipodystrophy: A disease to be considered in diabetes clinics von Helvaci, Burcak Cavnar, Saat, Hanife, Hepsen, Sema, Ozcelik, Ozgur, Ucan, Bekir, Cakal, Erman

Volltext

Investigation of Submicroscopic Chromosomal Anomalies on Patients with Unexplained Intellectual Disabilities with Molecular Karyotyping

Volltext

Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN  and  RET mutations in solid tumors von Sahin, Ibrahim, Saat, Hanife, Aksoy, Sercan, Dizdar, Omer, Erdem, Haktan Bagis, Bahsi, Taha

Volltext