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
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
Kozma, Kinga, Bembea, Marius, Jurca, Claudia M, Ioana, Mihai, Streață, Ioana, Şoşoi, Simona Ş, Pirvu, Andrei, Petchesi, Codruța D, Szilágyi, Ariana, Sava, Cristian N, Jurca, Alexandru, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Szakszon, Katalin
Published in Genes (23.10.2021)
Published in Genes (23.10.2021)
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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
The Role of Aminopeptidase ERAP1 in Human Pathology-A Review
Țiburcă, Laura, Zaha, Dana Carmen, Jurca, Maria Claudia, Severin, Emilia, Jurca, Aurora, Jurca, Alexandru Daniel
Published in Current Issues in Molecular Biology (20.02.2024)
Published in Current Issues in Molecular Biology (20.02.2024)
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Journal Article
The Treatment with Interleukin 17 Inhibitors and Immune-Mediated Inflammatory Diseases
Țiburcă, Laura, Bembea, Marius, Zaha, Dana Carmen, Jurca, Alexandru Daniel, Vesa, Cosmin Mihai, Rațiu, Ioana Adela, Jurca, Claudia Maria
Published in Current issues in molecular biology (26.04.2022)
Published in Current issues in molecular biology (26.04.2022)
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Journal Article
A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
Jurca, Claudia Maria, Frățilă, Ovidiu, Iliaș, Tiberia, Jurca, Aurora, Cătana, Andreea, Moisa, Corina, Jurca, Alexandru Daniel
Published in Genes (05.10.2023)
Published in Genes (05.10.2023)
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Journal Article
Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review
Jurca, Claudia Maria, Kozma, Kinga, Petchesi, Codruta Diana, Zaha, Dana Carmen, Magyar, Ioan, Munteanu, Mihai, Faur, Lucian, Jurca, Aurora, Bembea, Dan, Severin, Emilia, Jurca, Alexandru Daniel
Published in Genes (01.02.2023)
Published in Genes (01.02.2023)
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Journal Article
Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review
Jurca, Claudia Maria, Iuhas, Oana, Kozma, Kinga, Petchesi, Codruta Diana, Zaha, Dana Carmen, Bembea, Marius, Jurca, Sanziana, Paul, Corina, Jurca, Alexandru Daniel
Published in Genes (01.08.2022)
Published in Genes (01.08.2022)
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Journal Article
A New Frameshift Mutation of IPTEN/I Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
Jurca, Claudia Maria, Frățilă, Ovidiu, Iliaș, Tiberia, Jurca, Aurora, Cătana, Andreea, Moisa, Corina, Jurca, Alexandru Daniel
Published in Genes (01.10.2023)
Published in Genes (01.10.2023)
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