RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 E Szenker-Ravi, U Altunoglu, M Leushacke, C Bosso-Lefèvre, M Khatoo, ... Nature 557 (7706), 564-569, 2018 | 166 | 2018 |
hKChIP2 is a functional modifier of hKv4. 3 potassium channels: cloning and expression of a short hKChIP2 splice variant N Decher, O Uyguner, CR Scherer, B Karaman, M Yüksel-Apak, ... Cardiovascular research 52 (2), 255-264, 2001 | 113 | 2001 |
Congenital heart disease in children with Down’s syndrome: Turkish experience of 13 years K Nisli, N Oner, S Candan, H Kayserili, T Tansel, E Tireli, B Karaman, ... Acta cardiologica 63 (5), 585-589, 2008 | 88 | 2008 |
Maternal uniparental disomy 22 has no impact on the phenotype. AA Schinzel, S Basaran, F Bernasconi, B Karaman, M Yüksel-Apak, ... American journal of human genetics 54 (1), 21, 1994 | 83 | 1994 |
Chromo-pharmacophores: photochromic diarylmaleimide inhibitors for sirtuins C Falenczyk, M Schiedel, B Karaman, T Rumpf, N Kuzmanovic, M Grøtli, ... Chemical Science 5 (12), 4794-4799, 2014 | 64 | 2014 |
A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21. 1–p13. 3 O Uyguner, H Kayserili, Y Li, B Karaman, G Nürnberg, HC Hennies, ... Clinical genetics 71 (3), 212-219, 2007 | 39 | 2007 |
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome A Uzumcu, B Karaman, G Toksoy, ZO Uyguner, S Candan, H Eris, B Tatli, ... European journal of medical genetics 52 (5), 315-320, 2009 | 36 | 2009 |
A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel … AD Kardelen, G Toksoy, F Baş, ZY Abalı, G Gençay, Ş Poyrazoğlu, ... Journal of Clinical Research in Pediatric Endocrinology 10 (3), 206, 2018 | 31 | 2018 |
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene F Baş, G Toksoy, B Ergun-Longmire, ZO Uyguner, ZY Abalı, Ş Poyrazoğlu, ... The Journal of steroid biochemistry and molecular biology 181, 88-97, 2018 | 30 | 2018 |
Detection of Y chromosomal material in patients with a 45, X karyotype by PCR method CN Semerci, NL Satiroglu-Tufan, S Turan, A Bereket, B Tuysuz, E Yilmaz, ... The Tohoku journal of experimental medicine 211 (3), 243-249, 2007 | 28 | 2007 |
Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul Y Ergul, K Nisli, H Kayserili, B Karaman, S Basaran, B Koca, U Aydogan, ... Acta Cardiologica 67 (6), 649-655, 2012 | 25 | 2012 |
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases B Karaman, H Kayserili, A Ghanbari, ZO Uyguner, G Toksoy, U Altunoglu, ... Molecular Cytogenetics 11, 1-7, 2018 | 23 | 2018 |
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling G Toksoy, H Durmus, A Aghayev, G Bagirova, BS Rustemoglu, S Basaran, ... Neuromuscular Disorders 29 (8), 601-613, 2019 | 20 | 2019 |
A large duplication involving the IHH locus mimics acrocallosal syndrome M Yuksel-Apak, N Bögershausen, B Pawlik, Y Li, S Apak, O Uyguner, ... European journal of human genetics 20 (6), 639-644, 2012 | 20 | 2012 |
Amniyotik sıvı, trofoblast dokusu ve fetal kan örneğinde sitogenetik incelemeler. 527 olguluk seri sonuçları S Başaran, B Karaman, K Aydınlı, A Yüksel Jinekoloji Obstetrik Dergisi 6, 81-9, 1992 | 18 | 1992 |
The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey B Karaman, M Aytan, K Yilmaz, G Toksoy, EP Onal, A Ghanbari, A Engur, ... European journal of medical genetics 49 (3), 207-214, 2006 | 17 | 2006 |
The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses S Basaran, A Engur, M Aytan, B Karaman, A Ghanbari, G Toksoy, ... Fetal diagnosis and therapy 19 (4), 313-318, 2004 | 17 | 2004 |
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging G Turkyilmaz, T Sarac Sivrikoz, E Erturk, N Ozcan, B Tatlı, B Karaman, ... Journal of Obstetrics and Gynaecology Research 45 (8), 1472-1478, 2019 | 16 | 2019 |
Prenatal prediction of childhood‐onset spinal muscular atrophy (SMA) in Turkish families S Savas, S Eraslan, S Kantarci, B Karaman, D Acarsoz, T Tükel, O Cogulu, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2002 | 16 | 2002 |
Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography Y Ergul, K Nisli, H Kayserili, B Karaman, S Basaran, M Dursun, E Yilmaz, ... Cardiology Journal 19 (3), 301-308, 2012 | 15 | 2012 |