| CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 280 | 2014 |
| Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum. D Schanze, H Kayserili, BN Satkın, U Altunoglu, M Zenker American journal of medical genetics. Part A 164 (3), 837-840, 2013 | 21 | 2013 |
| Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2 AD Aslanger, U Altunoglu, E Aslanger, BN Satkın, ZO Uyguner, ... American journal of medical genetics Part A 164 (2), 484-489, 2014 | 15 | 2014 |
| Mild nasal clefting may be predictive for ALX4 heterozygotes U Altunoglu, B Satkın, ZO Uyguner, H Kayserili American Journal of Medical Genetics Part A 164 (8), 2054-2058, 2014 | 11 | 2014 |
| Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings E Çepni, NB Satkın, LA Moheb, ME Rocha, H Kayserili American Journal of Medical Genetics Part A 188 (4), 1226-1232, 2022 | 4 | 2022 |
| Follow-up studies of cf-DNA testing from 101 consecutive fetuses and related ultrasound findings S Basaran, R Has, IH Kalelioglu, B Karaman, M Kirgiz, T Dehgan, ... Ultraschall in der Medizin-European Journal of Ultrasound 41 (02), 175-185, 2020 | 4 | 2020 |
| New case of Dyskeratosis congenita 4 mimicking Hoyeraal-Hreidarsson syndrome with novel TERT gene mutation E Cepni, S Avci, NB Satkin, H Kayserili EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 337-338, 2022 | | 2022 |
| HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES B Karaman, S Ergin, H Kayserili, A Yüksel, NB Satkın, İH Kalelioğlu, ... Journal of Istanbul Faculty of Medicine 84 (2), 186-191, 2021 | | 2021 |
| HOLOPROZENSEFALİ: 127 ANTENATAL OLGUNUN ETYOPATOGENEZİNDE KROMOZOM ANOMALİLERİ K Birsen, E Selvi, Y Atıl, S Nihan, K İbrahim, H Recep, B Seher İstanbul Tıp Fakültesi Dergisi 84 (2), 186-191, 2021 | | 2021 |
| ARRAY-COMPARATIVE GENOMIC HYBRIDIZATION RESULTS IN CLINICALLY AFFECTED CASES WITH APPARENTLY BALANCED CHROMOSOMAL REARRANGEMENTS R Has, A Yüksel, S Başaran, BN Satkın, S Ergin, B Karaman, ... | | 2021 |
| Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements NB Satkin, B Karaman, S Ergin, H Kayserili, IH Kalelioglu, R Has, ... Balkan Journal of Medical Genetics 23 (2), 25-34, 2020 | | 2020 |
| The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients S Basaran, U Altunoglu, S Heidargholizadeh, B Karaman, G Toksoy, ... | | 2017 |
| Homozygous SHOX Gene Deletion Detected by Array-CGH in a Girl with Langer Mesomelic Dysplasia A Najafli, B Karaman, BN Satkin, U Altunoğlu, O Uyguner, S Başaran J Clin Res Pediatr Endocrinol 9 (1), 1-31, 2017 | | 2017 |
| CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... | | 2014 |
| Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases S BAŞARAN, H KAYSERİLİ, B KARAMAN, BN Satkın | | 2013 |
| Haploinsufficiency of SHH gene caused by deletion of 7q36-> qter: holoprosencephaly sequence in 5 cases B Satkin, H Kayserili, I Kalelioglu, B Karaman, O Uyguner, R Has, A Yukse, ... CHROMOSOME RESEARCH 19, S103-S104, 2011 | | 2011 |
| Variant philadelphia translocations in patients with chronic myeloid leukemia N Satkin, S Palanduz, B Karaman, G Bagatir, S Ozturk, K Cefle, A Ucur, ... CHROMOSOME RESEARCH 17, 161-162, 2009 | | 2009 |
| Translocation (1; 14) in hairy cell leukemia variant A Bayrak, A Ucur, B Satkin, S Palanduz, M Karan, S Ozturk, K Cefle CHROMOSOME RESEARCH 17, 162-162, 2009 | | 2009 |
| Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally B KARAMAN, İH Kalelioğlu, S BAŞARAN, H KAYSERİLİ, R HAS, ... | | |
| Familial Microdeletion of 3 Mb at 22q11. 2 With Unusual Phenotype BN Satkın, H KAYSERİLİ, S BAŞARAN, B KARAMAN, G Toksoy | | |
