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Anila Babameto-Laku
Anila Babameto-Laku
Prof. Dr. of Medical Genetics & Head of Genetic Laboratory Service | University Hospital Center ”Mother Teresa”, Faculty of Medicine, University of Medicine (Tirana, Albania)
在 fakultetimjekesise.edu.al 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
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
142011
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
122011
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
112009
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
102015
From Mendel to medical genetics
U Kristoffersson, M Macek
European Journal of Human Genetics 25 (2), S53-S59, 2017
92017
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
52019
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
42012
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
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