Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania
Iuhas, Alin Remus, Jurca, Claudia, Bembea, Marius
Published in Revista română de pediatrie (30.06.2022)
Published in Revista română de pediatrie (30.06.2022)
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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
Genetic variation in phenylketonuria: analysis of the PAHvdb database
Iuhas, Alin Remus, Jurca, Claudia, Bembea, Marius
Published in Revista română de pediatrie (31.03.2022)
Published in Revista română de pediatrie (31.03.2022)
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Journal Article
Genotype-phenotype correlation in phenylketonuria
Iuhas, Alin Remus, Jurca, Claudia, Bembea, Marius
Published in Revista română de pediatrie (31.12.2021)
Published in Revista română de pediatrie (31.12.2021)
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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
Bioethical aspects in type I neurofibromatosis
Petchesi, Codruța Diana, Ciavoi, Gabriela, Jurca, Claudia, Vulturar, Romana, Bembea, Marius
Published in Revista română de pediatrie (30.09.2021)
Published in Revista română de pediatrie (30.09.2021)
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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
DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS
Petchesi, Codruța Diana, Ciavoi, Gabriela, Feier, Florentina, Iuhas, Oana Alexandra, Kozma, Kinga, Jurca, Claudia, Bembea, Marius
Published in Revista română de pediatrie (30.06.2021)
Published in Revista română de pediatrie (30.06.2021)
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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
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
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
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
Proposal of a Novel Risk Score for Determination of Coronary Artery Disease Risk in Newly Diagnosed Diabetes Patients
Cosmin Mihai VESA, RADU, Carmen, POPA, Loredana, JURCA, Claudia, DAINA, Lucia, BALA, Cornelia, ROMAN, Gabriela, MOISI, Mădălina, POPA, Amorin, POPOVICIU, Mihaela, FERICIAN, Anca, ZAHA, Dana
Published in Iranian journal of public health (01.08.2020)
Published in Iranian journal of public health (01.08.2020)
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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