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
P390 Neonatal mitochondrial encephalocardiomyopathy – case report
Claudia, Jurca, Bogdan, Dima, Marius, Bembea, Eniko, Bereki, Ariana, Szilagyi, Andreea, Balmos, Alexandru, Jurca
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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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
Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants
Jurca, Alexandru Daniel, Galea-Holhos, Larisa Bianca, Jurca, Aurora Alexandra, Atasie, Diter, Petchesi, Codruta Diana, Severin, Emilia, Jurca, Claudia Maria
Published in Medicina (Kaunas, Lithuania) (28.06.2024)
Published in Medicina (Kaunas, Lithuania) (28.06.2024)
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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 Review of Genetic Diversity Based on the Y Chromosome in the Romanian Population
Hodișan, Ramona, Zaha, Dana C, Jurca, Claudia, Petchesi, Codruta D, Bembea, Marius
Published in Curēus (Palo Alto, CA) (23.08.2024)
Published in Curēus (Palo Alto, CA) (23.08.2024)
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