Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
Khan, Sheraz, Focșa, Ina Ofelia, Budișteanu, Magdalena, Stoica, Cristina, Nedelea, Florina, Bohîlțea, Laurențiu, Caba, Lavinia, Butnariu, Lăcrămioara, Pânzaru, Monica, Rusu, Cristina, Jurcă, Claudia, Chirita‐Emandi, Adela, Bănescu, Claudia, Abbas, Wasim, Sadeghpour, Azita, Baig, Shahid Mahmood, Bălgrădean, Mihaela, Davis, Erica E.
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Clinical and genetic heterogeneity of primary ciliopathies (Review)
Focsa, Ina Ofelia, Budisteanu, Magdalena, Balgradean, Mihaela
Published in International journal of molecular medicine (01.09.2021)
Published in International journal of molecular medicine (01.09.2021)
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Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature
Budişteanu, Magdalena, Burloiu, Carmen Magdalena, Papuc, Sorina Mihaela, Focşa, Ina Ofelia, Riga, Dan, Riga, Sorin, Arghir, Aurora
Published in Romanian journal of morphology and embryology (2019)
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Published in Romanian journal of morphology and embryology (2019)
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