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4421
Liver Transplant From a Deceased Donor With Cystinosis: A Case Report
Published 2025-01-01Get full text
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4422
Taxonomic structure of bacterial communities in sourdoughs of spontaneous fermentation
Published 2022-07-01Get full text
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4423
Morphogenetic peculiarities of reproductive biology in sugar beet (Beta vulgaris L.) breeding
Published 2023-06-01“…The review describes the in vitro culture methods maintaing a tendency in plants for vegetative propagation and stimulating increase in genetic variability of properties when mutagens such as ethyl methanesulfonate, alien genetic structures with mf2 and mf3 bacterial genes in Agrobacterium tumefaciens strains, and selective agents (Сd++ ions and abscisic acid) are incorporated into plant cells. …”
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4424
Characterization of demethylating DNA glycosylase ROS1 from Nicotiana tabacum L.
Published 2022-07-01Get full text
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4425
Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
Published 2025-01-01“…<b>Results:</b> Among the cohort of 204 patients, 148 subjects fulfilled ≥2 criteria established by the National Health Institute. Genetic testing was performed in 70 patients, with an 82.8% detection rate, of which 13 patients were excluded. …”
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CRISPR screen reveals modifiers of rAAV production including known rAAV infection genes playing an unexpected role in vector production
Published 2025-03-01“…Our findings provide evidence that host proteins associated with viral infection may have also been co-opted for viral assembly and that the genetic makeup of viral producer cells can be manipulated to increase particle yield.…”
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Efficacy and safety of once-weekly semaglutide monotherapy in a young subject with Prader-Willi syndrome, obesity, and type 2 diabetes: a case report
Published 2025-02-01“…Based on clinical presentation, PWS was suspected, and diagnosis was confirmed by genetic tests. The patient was discharged on a basal-bolus insulin therapy managed by his parents due to his cognitive impairment. …”
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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a...
Published 2025-02-01“…Abstract Background Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare genetic disorder characterized by movement disorders, motor and autonomic dysfunction, and developmental delays. …”
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ADAMTS1, CRABP1, and NR3C1 Identified as Epigenetically Deregulated Genes in Colorectal Tumorigenesis
Published 2006-01-01Get full text
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The Impact of PTPRK and ROS1 Polymorphisms on the Preeclampsia Risk in Han Chinese Women
Published 2021-01-01“…Emerging evidence indicates that the cause of PE is associated with genetic factors. Therefore, the aim of this study is to identify susceptibility genes to PE. …”
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Teenage Male with Cough and Recurrent Bruit
Published 2021-01-01“…Collaboration of physicians with diverse expertise generates optimal plan of therapy, particularly when faced with an unusual clinical finding. Genetics referral may be beneficial, as the body of literature on AVM is growing, and databases on associated syndromes are evolving. …”
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