Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Marijana Miskovic"'
Autor:
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack o
Externí odkaz:
https://doaj.org/article/78683611a3034c6699fa4b8a10379abe
Autor:
Sanja Cirkovic, Danijela Radivojevic, Marina Djurisic, Tanja Lalic, Marijana Miskovic, Bojana Dobric, Maja Djordjevic
Publikováno v:
Genetika, Vol 51, Iss 3, Pp 1009-1019 (2019)
The aim of the study was to estimate the type and the prevalence of chromosomal abnormalities and Y-chromosome microdeletions, analysed together for the first time in idiopathic infertile men in Serbia. During 10 years period among 823 couples with i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f08444fd53a504e8d37ad66bb286499
https://doi.org/10.2298/gensr1903009d
https://doi.org/10.2298/gensr1903009d
Autor:
Tanja Lalic, Danijela Radivojevic, Aleksandar Sovtic, Predrag Minic, Marija Guc-Scekic, Marijana Miskovic, Sanja Grkovic
Publikováno v:
Pediatrics International. 55:181-184
Background We performed a pilot study of neonatal screening for cystic fibrosis (CF) in order to introduce it to the national screening program in Serbia. Methods Immunoreactive trypsinogen (IRT) concentrations were analyzed in dried blood spot sampl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa578bc8c81e96f99bcb3641ab69bb7f
https://doi.org/10.1111/ped.12009
https://doi.org/10.1111/ped.12009
Autor:
Marija Guc-Scekic, Slavica Ostojic, Tanja Lalic, Danijela Radivojevic, Sanja Cirkovic, Marijana Miskovic
Publikováno v:
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. 124(1)
Objective To describe 10 years of experience of prenatal analysis of spinal muscular atrophy (SMA). Methods Data were retrospectively evaluated from prenatal analysis and carrier screening among parents and close relatives between January 2003 and De
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fba043b3b666f5c546ebc74b3f66dfb0
https://pubmed.ncbi.nlm.nih.gov/24144239
https://pubmed.ncbi.nlm.nih.gov/24144239
Autor:
Danijela, Radivojevic, Aleksandar, Sovtic, Predrag, Minic, Sanja, Grkovic, Marija, Guc-Scekic, Tanja, Lalic, Marijana, Miskovic
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 55(2)
We performed a pilot study of neonatal screening for cystic fibrosis (CF) in order to introduce it to the national screening program in Serbia.Immunoreactive trypsinogen (IRT) concentrations were analyzed in dried blood spot samples. Patients were re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::782e9d70b28b2fb1dc2720d289599ac5
https://pubmed.ncbi.nlm.nih.gov/23163630
https://pubmed.ncbi.nlm.nih.gov/23163630
Autor:
Gordana Vlahovic, Danijela Radivojevic, Tanja Lalic, Sanja Cirkovic, Marijana Miskovic, Marija Guc-Scekic, D. Zamurovic
Publikováno v:
The Tohoku journal of experimental medicine. 225(3)
Spinal muscular atrophy (SMA) is the second most frequent autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to muscular atrophy. SMA is classified into three types according to disease se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae98dbbfdffc8cf1667760eb9b4ba4bd
https://pubmed.ncbi.nlm.nih.gov/21971302
https://pubmed.ncbi.nlm.nih.gov/21971302