Zobrazeno 1 - 10 of 25 pro vyhledávání: '"M. Kuturec"'
1
Molecular Analysis of Friedreich's Ataxia in Macedonian Patients
Autor: Svetlana Kocheva, M Kuturec, Georgi D. Efremov, S Trivodalieva, S Vlaski-Jekic
Publikováno v: Balkan Journal of Medical Genetics, Vol 11, Iss 1, Pp 61-64 (2008)
Molecular Analysis of Friedreich's Ataxia in Macedonian PatientsFriedreich's ataxia (FRDA) is rare a progressive neurodegenerative disorder of autosomal recessive inheritance, which is associated with an unstable expansion of a GAA trinucleotide repe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8423c0d77076196495d24b5d363ff59c
https://doaj.org/article/b01e4f5dcb9c4520b3268bde66c1a07e
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2
Molecular Analysis of Survival Motor Neuron and Neuronal Apoptosis Inhibitory Protein Genes in Macedonian Spinal Muscular Atrophy Patients
Autor: M Kuturec, Georgi D. Efremov, S Vlaski-Jekic, Svetlana Kocheva
Publikováno v: Balkan Journal of Medical Genetics, Vol 10, Iss 2, Pp 55-60 (2007)
Molecular Analysis of Survival Motor Neuron and Neuronal Apoptosis Inhibitory Protein Genes in Macedonian Spinal Muscular Atrophy PatientsSpinal muscular atrophy (SMA) is classified according to the age of onset and severity of the clinical manifesta
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c082bdf5a8bbba85f306379c26b0092
https://doi.org/10.2478/v10034-008-0007-z
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3
Prenatal Diagnosis in Macedonian Duchenne Muscular Dystrophy Families
Autor: Dijana Plaseska-Karanfilska, Svetlana Kocheva, Georgi D. Efremov, S Trivodalieva, M Kuturec, S Vlaski-Jekic
Publikováno v: Balkan Journal of Medical Genetics, Vol 11, Iss 2, Pp 59-63 (2008)
Duchenne muscular dystrophy (DMD) is an Xlinked recessive disorder caused by mutations in the dystrophin gene at Xp21.2. Mutations include gross deletions (60%), duplications (10%), and point mutations (30%). Duchenne muscular dystrophy is a serious
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb5da3585cf58126425278fb62458cb9
https://doi.org/10.2478/v10034-008-0029-6
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5
Febrile seizures: is the EEG a useful predictor of recurrences?
Autor: K.B. Nelson, N. Sofijanov, S.E. Emoto, F. Duma, Deborah Hirtz, J.H. Ellenberg, M. Dukovski, M. Kuturec
Publikováno v: Clinical pediatrics. 36(1)
We examined the predictive value of a paroxysmal EEG in children with febrile seizures seen at the University Pediatric Clinic, Skopje, Macedonia, between 1982 and 1984. This was the only facility providing EEG or neurologic consultation for children
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cdbd325b6c8e18e79fce2743637b0f2
https://pubmed.ncbi.nlm.nih.gov/9007345
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6
Febrile seizures: clinical characteristics and initial EEG
Autor: Karin B. Nelson, S.E. Emoto, F. Duma, Deborah Hirtz, N. Sofijanov, M. Kuturec, M. Dukovski, Jonas H. Ellenberg
Publikováno v: Epilepsia. 33(1)
We examined the relationship between clinical characteristics and EEG classification in all children with febrile seizures examined at the University Pediatric Clinic, Skopje, Yugoslavia between 1982 and 1984. This is the only facility in Macedonia p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e1bcb013a304c64dd6bcb316da222b
https://pubmed.ncbi.nlm.nih.gov/1733760
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