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
Difficulties in the management of an Askin tumor in a pediatric patient with cystic fibrosis: case report and literature review
Marinău, Cristian, Csep, Andrei, Sava, Cristian, Iuhas, Alin, Niulaș, Larisa, Szilagyi, Ariana, Ritli, Ladislau, Balmoș, Andreea, Jurca, Claudia
Published in Frontiers in pediatrics (01.12.2023)
Published in Frontiers in pediatrics (01.12.2023)
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Journal Article
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania
Iuhas, Alin, Jurca, Claudia, Kozma, Kinga, Riza, Anca-Lelia, Streață, Ioana, Petcheși, Codruța, Dan, Andra, Sava, Cristian, Balmoș, Andreea, Marinău, Cristian, Niulaș, Larisa, Ioana, Mihai, Bembea, Marius
Published in Diagnostics (Basel) (20.04.2023)
Published in Diagnostics (Basel) (20.04.2023)
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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
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
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
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
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
Legal medicine implications in fibrinolytic therapy of acute ischemic stroke
Sabau, Monica, Bungau, Simona, Buhas, Camelia Liana, Carp, Gheorghe, Daina, Lucia-Georgeta, Judea-Pusta, Claudia Teodora, Buhas, Bogdan Adrian, Jurca, Claudia Maria, Daina, Cristian Marius, Tit, Delia Mirela
Published in BMC medical ethics (14.10.2019)
Published in BMC medical ethics (14.10.2019)
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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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Journal Article
Fanconi anemia with cleft palate
Jurca, A, Kinga, Kozma, Bembea, M, Gug, Cristina, Jurca, Claudia
Published in Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi (01.10.2014)
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Published in Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi (01.10.2014)
Journal Article
Clinical-Epidemiological Study of a Cohort of 35 Patients with Craniosynostosis
Somolan, Claudia-Victoria, Petchesi, Codruta Diana, Jurca, Claudia, Bembea, Marius
Published in Mædica (01.12.2022)
Published in Mædica (01.12.2022)
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Journal Article
Changes in skeletal dysplasia nosology
Jurcă, Maria Claudia, Jurcă, Sânziana Iulia, Mirodot, Filip, Bercea, Bogdan, Severin, Emilia Maria, Bembea, Marius, Jurcă, Alexandru Daniel
Published in Romanian journal of morphology and embryology (01.07.2021)
Published in Romanian journal of morphology and embryology (01.07.2021)
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Journal Article
Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature
Jurcă, Maria Claudia, Iuhas, Oana Alexandra, Puiu, Maria, Chiriţă-Emandi, Adela, Andreescu, Nicoleta Ioana, Petcheşi, Codruţa Diana, Jurcă, Alexandru Daniel, Magyar, Ioan, Jurcă, Sânziana Iulia, Kozma, Kinga, Severin, Emilia Maria, Bembea, Marius
Published in Romanian journal of morphology and embryology (01.04.2021)
Published in Romanian journal of morphology and embryology (01.04.2021)
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Journal Article
Unusual extramedullary relapses in a case of common B-cell acute lymphoblastic leukemia. Case report and review of literature
Sava, Cristian Nicolae, Ritli, Ladislau, Balmoş, Andreea Bianca, Iuhas, Alin Remus, Marian, Paula, Motorca, Monica Adriana, Lele, Laura Anca, Straciuc, Oreste, Zaha, Dana Carmen, Jurcă, Maria Claudia, Niulaş, Larisa, Negruţ, Nicoleta
Published in Romanian journal of morphology and embryology (2019)
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Published in Romanian journal of morphology and embryology (2019)
Journal Article