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Academic Journal

Excessive transcription-replication conflicts are a vulnerability of BRCA1-mutant cancers.

  • Authors : Patel PS; Princess Margaret Cancer Centre, University Health Network, Toronto, OntarioM5G 1L7, Canada.; Department of Medical Biophysics, University of Toronto, OntarioM5G 1L7, Canada.

Subjects: BRCA1 Protein*/BRCA1 Protein*/BRCA1 Protein*/deficiency ; BRCA1 Protein*/BRCA1 Protein*/BRCA1 Protein*/genetics ; DNA Replication*/DNA Replication*/DNA Replication*/genetics

  • Source: Nucleic acids research [Nucleic Acids Res] 2023 May 22; Vol. 51 (9), pp. 4341-4362.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Study on the Zinc Nutritional Status and Risk Factors of Chinese 6-18-Year-Old Children.

  • Authors : Lu J; Key Laboratory of Trace Element Nutrition, National Health Commission of the People's Republic of China, National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.; Zhang H

Subjects: Nutritional Status* ; Zinc*/Zinc*/Zinc*/blood ; Zinc*/Zinc*/Zinc*/deficiency

  • Source: Nutrients [Nutrients] 2023 Mar 30; Vol. 15 (7). Date of Electronic Publication: 2023 Mar 30.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Conference

Нормативно-законодавчі важелі забезпечення освітянськими бібліотеками модернізаційного змісту інформаційних ресурсів

Subjects: BB. Bibliometric methods; BC. Information in society.; DF. Government libraries.

  • Source: Кропочева, Н. Нормативно-законодавчі важелі забезпечення освітянськими бібліотеками модернізаційного

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Editorial & Opinion

Selenium Deficiency in COVID-19-A Possible Long-Lasting Toxic Relationship.

  • Authors : Schomburg L; Institute for Experimental Endocrinology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10115 Berlin, Germany.

Subjects: SARS-CoV-2*; COVID-19/COVID-19/COVID-19/*blood ; COVID-19/COVID-19/COVID-19/*complications

  • Source: Nutrients [Nutrients] 2022 Jan 11; Vol. 14 (2). Date of Electronic Publication: 2022 Jan 11.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72-associated ALS/FTD.

  • Authors : Park J; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea.; Lee J

Subjects: Protein Biosynthesis*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; C9orf72 Protein/C9orf72 Protein/C9orf72 Protein/*genetics

  • Source: Nucleic acids research [Nucleic Acids Res] 2021 Nov 08; Vol. 49 (19), pp. 11294-11311.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.

  • Authors : Stenlid R; Department of Medical Cell Biology, Uppsala University, Uppsala, Sweden.; Olsson D

Subjects: Leukocytes, Mononuclear* ; Oxidation-Reduction*; Acyl-CoA Dehydrogenase, Long-Chain/Acyl-CoA Dehydrogenase, Long-Chain/Acyl-CoA Dehydrogenase, Long-Chain/*genetics Systemic carnitine deficiency

  • Source: Clinical and translational science [Clin Transl Sci] 2022 Jan; Vol. 15 (1), pp. 182-194. Date of Electronic Publication: 2021 Aug 26.Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

  • Authors : Rücklová K; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Paediatrics, 3rd Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, 100 34 Prague, Czech Republic.

Subjects: Acyl-CoA Dehydrogenase/Acyl-CoA Dehydrogenase/Acyl-CoA Dehydrogenase/*deficiency ; Cardiomyopathies/Cardiomyopathies/Cardiomyopathies/*diagnosis ; Cardiomyopathies/Cardiomyopathies/Cardiomyopathies/*diet therapy 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Medium chain acyl CoA dehydrogenase deficiency; Trifunctional Protein Deficiency With Myopathy And Neuropathy

  • Source: Nutrients [Nutrients] 2021 Aug 24; Vol. 13 (9). Date of Electronic Publication: 2021 Aug 24.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Metacyclogenesis defects and gene expression hallmarks of histone deacetylase 4-deficient Trypanosoma cruzi cells.

Subjects: Gene Expression Regulation/Gene Expression Regulation/Gene Expression Regulation/*genetics ; Histone Deacetylases/Histone Deacetylases/Histone Deacetylases/*deficiency ; Histone Deacetylases/Histone Deacetylases/Histone Deacetylases/*genetics

  • Source: Scientific reports [Sci Rep] 2021 Nov 04; Vol. 11 (1), pp. 21671. Date of Electronic Publication: 2021 Nov 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.

  • Authors : Cao L; Department of Hepatology, Fifth Medical Center, PLA General Hospital, No.100, West Fourth Ring Road, Fengtai District, Beijing, 100039, China.; Ling X

Subjects: ATP Binding Cassette Transporter, Subfamily B*/ATP Binding Cassette Transporter, Subfamily B*/ATP Binding Cassette Transporter, Subfamily B*/deficiency ; Cholestasis*/Cholestasis*/Cholestasis*/genetics ; Cholestasis, Intrahepatic*/Cholestasis, Intrahepatic*/Cholestasis, Intrahepatic*/geneticsCholestasis, progressive familial intrahepatic 3

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 12; Vol. 19 (1), pp. 157. Date of Electronic Publication: 2024 Apr 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.

  • Authors : Xuan X; Department of Neurology, Hangzhou Ninth People's Hospital, Hangzhou, China.; Ruan J

Subjects: Peripheral Nervous System Diseases* ; Movement Disorders* ; Mitochondrial Diseases*Mitochondrial Complex III Deficiency

  • Source: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Mar; Vol. 30 (3), pp. e14425. Date of Electronic Publication: 2023 Nov 06.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  24,475 results for ""DF""