A case of Bardet‑Biedl syndrome caused by a recurrent variant in BBS12 : A case report
Focsa, Ina Ofelia, Budisteanu, Magdalena, Burloiu, Carmen, Khan, Sheraz, Sadeghpour, Azita, Bohiltea, Laurentiu C, Davis, Erica E, Balgradean, Mihaela
Published in Biomedical reports (01.12.2021)
Published in Biomedical reports (01.12.2021)
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Journal Article
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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Journal Article
Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases
Budisteanu, Magdalena, Jurca, Claudia, Papuc, Sorina Mihaela, Focsa, Ina, Riga, Dan, Riga, Sorin, Jurca, Alexandru, Arghir, Aurora
Published in Open life sciences (01.01.2020)
Published in Open life sciences (01.01.2020)
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Journal Article
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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Journal Article
The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome
FOCSA, Ina-Ofelia, TUTULAN-CUNITA, Andreea, PAVEL, Anca, PREPELITA, Diana, BRATU, Diana, BOHILTEA, Laurentiu Camil, STAMBOULI, Danae
Published in Medicina modernă (Bucharest, Romania) (21.09.2022)
Published in Medicina modernă (Bucharest, Romania) (21.09.2022)
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Journal Article
Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome
FOCSA, Ina Ofelia, BUDISTEANU, Magdalena, STOICA, Cristina, NEDELEA, Florina, JURCA, Claudia, CABA, Lavinia, PANZARU, Monica, RUSU, Cristina, BALGRADEAN, Mihaela, BUTNARIU, Lacramioara
Published in Medicina modernă (Bucharest, Romania) (30.03.2022)
Published in Medicina modernă (Bucharest, Romania) (30.03.2022)
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Journal Article
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)
Journal Article