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| A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ... Human molecular genetics 22 (25), 5121-5135, 2013 | 242 | 2013 |
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| Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s disease PO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ... New England Journal of Medicine 374 (26), 2553-2562, 2016 | 135 | 2016 |
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| A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy GE Utine, G Haliloğlu, B Salancı, A Çetinkaya, PÖ Kiper, Y Alanay, ... Journal of child neurology 28 (7), 926-932, 2013 | 79 | 2013 |
| Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes NC Bramswig, HJ Lüdecke, Y Alanay, B Albrecht, A Barthelmie, ... Human genetics 134, 553-568, 2015 | 76 | 2015 |
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| A multidisciplinary approach to the management of individuals with fragile X syndrome Y Alanay, F Ünal, G Turanlı, M Alikaşifoğlu, D Alehan, U Akyol, E Belgin, ... Journal of Intellectual Disability Research 51 (2), 151-161, 2007 | 53 | 2007 |
| Association of the 677C→ T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects K Boduroglu, M Alikaşifoğlu, B Anar, E Tunçbilek Journal of child neurology 14 (3), 159-161, 1999 | 53 | 1999 |
| Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features A Arman, A Bereket, A Coker, PÖŞ Kiper, T Güran, B Özkan, Z Atay, ... Orphanet journal of rare diseases 9, 1-8, 2014 | 49 | 2014 |
| HERC1 mutations in idiopathic intellectual disability GE Utine, EZ Taşkıran, C Koşukcu, B Karaosmanoğlu, N Güleray, ... European Journal of Medical Genetics 60 (5), 279-283, 2017 | 44 | 2017 |
| Neocentric small supernumerary marker chromosomes (sSMC)–three more cases and review of the literature T Liehr, GE Utine, U Trautmann, A Rauch, A Kuechler, J Pietracz, ... Cytogenetic and genome research 118 (1), 31-37, 2007 | 44 | 2007 |
| Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, ... The American Journal of Human Genetics 99 (1), 236-245, 2016 | 43 | 2016 |
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| Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations A Iida, PÖ Simsek‐Kiper, S Mizumoto, T Hoshino, N Elcioglu, ... Human mutation 34 (10), 1381-1386, 2013 | 40 | 2013 |
