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1
المؤلفون: N. Kuneshka, Vahe Mokini, Anila Babameto-Laku, Z. Ylli, S. Sallabanda
المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 73-76 (2012)مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, business.industry, Duplication chromosome 16p, Case Report, Karyotype, QH426-470, medicine.disease, Blepharophimosis, Multiplex ligation-dependent probe amplification (MLPA) technique, Pulmonary hypertension, Inguinal hernia, Palpebral fissure, Ptosis, Gene duplication, Genetics, medicine, Multiplex ligation-dependent probe amplification, medicine.symptom, business, Genetics (clinical)
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2
المؤلفون: Anila Mitre, Vahe Mokini, Anila Babameto-Laku, S Berisha, D Roko
المصدر: Balkan Journal of Medical Genetics, Vol 14, Iss 1, Pp 45-50 (2011)
Balkan Journal of Medical Genetics : BJMGمصطلحات موضوعية: Genetics, education.field_of_study, Thalassemia, Population, Heterozygote advantage, Prenatal diagnosis, Biology, QH426-470, medicine.disease, Sickle cell anemia, temporal temperature gradient electrophoresis (ttge), Sickle cell syndrome, medicine, Original Article, β-thalassemia (β-thal), Allele, education, polymorphisms, Genetics (clinical), enzyme digestion, Enzyme digestion
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3A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program
المؤلفون: Silvia Russo, Federica Sangiuolo, Leila Baghernajad-Salehi, Giuseppe Novelli, Maria Rosaria D'Apice, Anila Mitre, Michela Biancolella, Nicola Di Daniele, Vahe Mokini, Anila Babameto-Laku
المصدر: Acta Haematologica. 121:234-238
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Hemoglobins, Abnormal, DNA Mutational Analysis, Immunoblotting, Population, Pilot Projects, Anemia, Sickle Cell, Heterozygote Detection, β thalassaemia, Polymerase Chain Reaction, Screening programme, Hemoglobins, Gene Frequency, Patient Education as Topic, hemic and lymphatic diseases, Humans, Medicine, Health planning, Saliva, education, education.field_of_study, business.industry, Genetic Carrier Screening, Genetic Drift, beta-Thalassemia, Anemia, Hematology, General Medicine, Sickle Cell, Globins, Hemoglobinopathies, Beta-thalassaemia, Settore MED/03 - Genetica Medica, Program Evaluation, Albania, Female, Abnormal, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7920c1b51ee034516f41c362a5b670d
https://doi.org/10.1159/000226423 -
4
المؤلفون: Eibhlin Conneally, Li An, Kanokwan Sanchaisuriya, A.S. Araújo, M.N.N. Santos, L.R.S. Vasconcelos, Nicholas C. Zoumbos, Hiroshi Handa, Yoshihisa Nojima, F. Lacquet, Eleni D. Lagadinou, A. Ruiz-Sáez, Maria K. Angelopoulou, Theodoros P. Vassilakopoulos, Maria Rosaria D'Apice, Yoshiaki Ishigatsubo, Arito Yamane, Shin Fujisawa, Giuseppa Penna, Hirotaka Nakahashi, Caterina Musolino, Hiroyuki Fujita, Naoto Tomita, M.M. Speeckaert, Jian Ouyang, P. Moura, Rie Hyo, Olga Tsopra, Jing Wang, Jun Taguchi, Kengo Takeuchi, Anila Mitre, Shigeki Motomura, Chizuko Hashimoto, Alessandro Allegra, C. Verhelst, Supan Fucharoen, Gyo Jun, A. Koch, Sarah Daly, Sachiya Takemura, Goonnapa Fucharoen, Argiris Symeonidis, M.S.M. Cavalcanti, Bing Chen, T.F. Mendonça, Thawalwong Ratanasiri, Hideki Uchiumi, Masaru Kojima, Jae-Won Park, Michela Biancolella, Gerassimos A. Pangalis, Nattaya Sae-ung, Hirokazu Murakami, Y. Tersek, Panos G. Ziros, Angela Granata, Andrea Alonci, Rossarin Karnpean, Giuseppe Novelli, Jeong-Soo Im, Yonggong Yang, R. Speeckaert, Leila Baghernajad-Salehi, Yun-Jae Jung, M.A.C. Bezerra, Patricia Rizzotti, Norifumi Tsukamoto, Ju Young Seoh, Koji Ogawa, Silvia Russo, Federica Sangiuolo, Masamitsu Karasawa, Arianna D'Angelo, R. Marchi Cappelletti, Eleni Thanopoulou, Takayuki Saitoh, Alexandra Kouraklis-Symeonidis, Stephen E. Langabeer, Shi Chen, Chang-Hoon Jeon, Nicola Di Daniele, Vahe Mokini, Anila Babameto-Laku, M.C.V.C. Oliveira, M. Meyer, Rongfu Zhou
المصدر: Acta Haematologica. 121:I-IV
مصطلحات موضوعية: Hematology, General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4471d8da7331cdceca2d0223f01fdfea
https://doi.org/10.1159/000229998 -
5
المؤلفون: Vahe Mokini, Bruno Dallapiccola, Laura Bernardini, Paolo Simi, Anna Capalbo, Rita Mingarelli, Marco Castori, Alice Bertuccelli, Antonio Novelli
المصدر: American journal of medical genetics. Part A. (24)
مصطلحات موضوعية: medicine.medical_specialty, Trisomy, Biology, Gene mutation, Craniosynostosis, Craniosynostoses, Fatal Outcome, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosome Aberrations, Homeodomain Proteins, Cytogenetics, Facies, Infant, Karyotype, Gene rearrangement, Syndrome, Synostosis, medicine.disease, Chromosome Banding, DNA-Binding Proteins, Chromosomes, Human, Pair 5, Female
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6
المؤلفون: Rita Fischetto, Vahe Mokini, Giuseppe Calabrese, Valentina Gatta, Stefano Tumini, Chiara Palka, Liborio Stuppia, Elisena Morizio, Ivana Antonucci
المصدر: Journal of human genetics. 52(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Buccal swab, Dwarfism, Chromosomal rearrangement, Biology, Osteochondrodysplasias, Polymerase Chain Reaction, Short Stature Homeobox Protein, Genetics, medicine, Humans, Abnormalities, Multiple, Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Growth Disorders, Homeodomain Proteins, Chromosomes, Human, X, medicine.diagnostic_test, Breakpoint, Cytogenetics, medicine.disease, Molecular biology, Idiopathic short stature, Female, Gene Deletion, Fluorescence in situ hybridization
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7
المؤلفون: Theodoros P. Vassilakopoulos, Nicola Di Daniele, Vahe Mokini, Bing Chen, A. Ruiz-Sáez, Maria K. Angelopoulou, Hirotaka Nakahashi, Yoshiaki Ishigatsubo, Jae-Won Park, Gerassimos A. Pangalis, Eibhlin Conneally, P. Moura, Anila Babameto-Laku, Hiroyuki Fujita, Maria Rosaria D'Apice, M.N.N. Santos, L.R.S. Vasconcelos, Anila Mitre, Jun Taguchi, Supan Fucharoen, Rie Hyo, Jing Wang, Gyo Jun, Yoshihisa Nojima, Shi Chen, A. Koch, Federica Sangiuolo, Alessandro Allegra, Masaru Kojima, Patricia Rizzotti, Rossarin Karnpean, Thawalwong Ratanasiri, Chang-Hoon Jeon, Nicholas C. Zoumbos, Hiroshi Handa, Silvia Russo, Andrea Alonci, Arianna D'Angelo, F. Lacquet, Eleni D. Lagadinou, Shin Fujisawa, R. Marchi Cappelletti, M.C.V.C. Oliveira, Eleni Thanopoulou, Norifumi Tsukamoto, M.A.C. Bezerra, Takayuki Saitoh, Ju Young Seoh, Kengo Takeuchi, M.M. Speeckaert, Li An, M.S.M. Cavalcanti, Alexandra Kouraklis-Symeonidis, Stephen E. Langabeer, Koji Ogawa, Leila Baghernajad-Salehi, T.F. Mendonça, Shigeki Motomura, Olga Tsopra, Yonggong Yang, C. Verhelst, Masamitsu Karasawa, Sachiya Takemura, Argiris Symeonidis, Sarah Daly, M. Meyer, Rongfu Zhou, R. Speeckaert, Jeong-Soo Im, Hirokazu Murakami, Y. Tersek, Angela Granata, Yun-Jae Jung, Michela Biancolella, Arito Yamane, Caterina Musolino, Naoto Tomita, A.S. Araújo, Hideki Uchiumi, Kanokwan Sanchaisuriya, Jian Ouyang, Chizuko Hashimoto, Giuseppa Penna, Nattaya Sae-ung, Goonnapa Fucharoen, Panos G. Ziros, Giuseppe Novelli
المصدر: Acta Haematologica. 121:246-246
مصطلحات موضوعية: Index (economics), Statistics, Subject (documents), Hematology, General Medicine, Mathematics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31badd56fc5625de2b2f15b0f54bf534
https://doi.org/10.1159/000230000