The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation A Babameto-Laku, M Tabaku, V Tashko, M Cikuli, V Mokini Genetic Counseling 22 (4), 377, 2011 | 14 | 2011 |
Molecular genetic characterization of β-thalassemia and sickle cell syndrome in the Albanian population A Babameto-Laku, A Mitre, S Berisha, V Mokini, D Roko Balkan Journal of Medical Genetics 14 (1), 45-50, 2011 | 12 | 2011 |
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program L Baghernajad-Salehi, MR D’Apice, A Babameto-Laku, M Biancolella, ... Acta haematologica 121 (4), 234-238, 2009 | 11 | 2009 |
Turner syndrome in Albania and the efficacy of its treatment with growth hormone P Hoxha, A Babameto-Laku, G Vyshka, K Gjoka, D Minxuri, E Myrtaj, ... Journal of Pediatric Endocrinology and Metabolism 28 (11-12), 1227-1234, 2015 | 10 | 2015 |
From Mendel to medical genetics U Kristoffersson, M Macek European Journal of Human Genetics 25 (2), S53-S59, 2017 | 9 | 2017 |
A novel pathological ARSB mutation (c. 870G> a; p. Trp290stop) in Mucopolysaccharidosis type VI patients VS Hançer, M Büyükdoğan, A Babameto-Laku Molecular Syndromology 10 (5), 272-275, 2019 | 5 | 2019 |
16p subtelomeric duplication with vascular anomalies: an Albanian case report and literature review A Babameto-Laku, V Mokini, N Kuneshka, S Sallabanda, Z Ylli Balkan Journal of Medical Genetics 15 (2), 73-76, 2012 | 4 | 2012 |
Clinical and molecular findings in three Albanian families with KBG syndrome caused by mutation of ANKRD11 gene A Babameto-Laku, A Bushati, A Gjikopulli EUROPEAN JOURNAL OF HUMAN GENETICS 32, 237-237, 2024 | | 2024 |
A MID1 gene deletion in an Albanian patient with X linked Opitz G BBB syndrome A Babameto-Laku, D Roko, A Mitre, F Alia, C Konialis, C Pangalos MOLECULAR CYTOGENETICS 12, 2019 | | 2019 |
A targeted NGS approach to identify a c. 352C> G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome E Manara, D Guraj, F Fanelli, PE Maltese, A Babameto-Laku, ... GENETICS AND MOLECULAR RESEARCH 16 (4), 2017 | | 2017 |
THE USE OF ARRAY CGH IN A COHORT OF ALBANIAN CHILDREN WITH DEVELOPMENT DELAY/INTELLECTUAL DISABILITY, CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES A Babameto-Laku, D Roko, M Tabaku, Bali (Alia), Donjeta EUROPEAN JOURNAL OF PEDIATRICS 176 (11), 1495-1495, 2017 | | 2017 |
Clinical and molecular findings in an Albanian family with familial adenomatous polyposis PE Maltese, G Di Saverio, E Manara, F Fanelli, N Capodicasa, D Guraj, ... GENETICS AND MOLECULAR RESEARCH 16 (4), 2017 | | 2017 |
Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children A Babameto-Laku, S Grabova, G Vyshka, J Kruja Journal of Pediatric Epilepsy 6 (03), 156-160, 2017 | | 2017 |
Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH. Open Access Maced J Med Sci. 2017 Aug 15; 5 (5): 587-591 A Babameto-Laku, D Roko, G Vyshka | | 2017 |
A de novo interstitial 6q deletion: genotype-phenotype correlation utilizing array CGH A Babameto-Laku, D Roko CHROMOSOME RESEARCH 23, S44-S44, 2015 | | 2015 |
International prognostic scoring system (IPSS) in albanian patients with myelodysplastic syndromes AD Dorina Roko, Anila Babameto-Laku, Adela Perolla, Donjeta Bali Essays on Ecosystem and Enviromental Research, Proceedings book, 74-78, 2015 | | 2015 |
Clinical and molecular characterization of a patient with a 2q22. 3 to 2q24. 1 deletion A Babameto-Laku, V Mokini, D Roko, A Angioni, R Mingarelli, T Liehr, ... Российский вестник перинатологии и педиатрии 60 (4), 175-175, 2015 | | 2015 |
COMPARISON OF FLUORESCENCE IN SITU HYBRIDIZATION AND CHROMOSOME BANDING ANALYSIS FOR THE DEFINITION OF COMPLETE CYTOGENETIC RESPONSE IN CHRONIC MYELOID LEUKEMIA PATIENTS … D Roko, A Babameto-Laku, T Caja, D Bali HAEMATOLOGICA 98, 568-568, 2013 | | 2013 |
Breakpoint characterization in a patient with a complex rearrangement of chromosome 2 including a del (2)(p21) and a del (2)(q22. 3q24. 1) A Babameto-Laku, V Mokini, A Angioni, R Mingarelli, B Dallapiccola CHROMOSOME RESEARCH 21, S113-S114, 2013 | | 2013 |
Cytogenetic responses in chronic myeloid leukemia patients treated with imatinib mesylate A Babameto-Laku, V Mokin, M Cikuli, P Xhumari CHROMOSOME RESEARCH 13, 158-158, 2005 | | 2005 |