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Treffer 1 - 20 von 22 für Suche '"Codon, Nonsense"', Suchdauer: 6,09s Treffer weiter einschränken
  1. 1
    A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiency
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  2. 2
    Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  3. 3
    Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation
    von Li, Muquan
    Veröffentlicht in: Clinical immunology (Orlando, Fla.) (2024)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  4. 4
    Premature termination codon a tunable protein translation approach
    von Cheng, Xiyao
    Veröffentlicht in: BioTechniques (2022)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  5. 5
    A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas
    von Minto, Heather
    Veröffentlicht in: Clinical immunology (Orlando, Fla.) (2019)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  6. 6
    A young girl with severe cerebral fungal infection due to card 9 deficiency
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  7. 7
    Study of gene mutation in 62 hemophilia A children
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  8. 8
    Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review
    Schlagworte: “...NLM Codon, Nonsense...”

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  9. 9
    Clinical characteristics of thyroid hormone resistance syndrome in two cases with different subtypes
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  10. 10
    Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1
    von Platt, Craig D
    Veröffentlicht in: Clinical immunology (Orlando, Fla.) (2017)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  11. 11
    A brachytic dwarfism trait (dw) in peach trees is caused by a nonsense mutation within the gibberellic acid receptor PpeGID1c
    von Hollender, Courtney A
    Veröffentlicht in: The New phytologist (2016)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  12. 12
    A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
    von Zhang, Chi
    Veröffentlicht in: Neural plasticity (2016)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  13. 13
    One case of early-onset epileptic encephalopathy caused by KCNQ2 gene nonsense mutation
    Schlagworte: “...NLM Codon, Nonsense...”
    Aufsatz

  14. 14
    A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl a delayed diagnosis until recurrent ovary cysts
    Schlagworte: “...NLM Codon, Nonsense...”
    Aufsatz

  15. 15
    Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection
    von Alsina, L
    Veröffentlicht in: Clinical immunology (Orlando, Fla.) (2014)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  16. 16
    Base substitution mutations in uridinediphosphate-dependent glycosyltransferase 76G1 gene of Stevia rebaudiana causes the low levels of rebaudioside A mutations in UGT76G1, a key gene of steviol glycosides synthesis
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  17. 17
    Isolation of Arabidopsis ahg11, a weak ABA hypersensitive mutant defective in nad4 RNA editing
    von Murayama, Maki
    Veröffentlicht in: Journal of experimental botany (2012)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  18. 18
    A case report of genetic analysis in the OCRL1 gene in Lowe syndrome
    Schlagworte: “...NLM Codon, Nonsense...”
    Aufsatz

  19. 19
    Functional complementation of dwf4 mutants of Arabidopsis by overexpression of CYP724A1
    von Zhang, Rujia
    Veröffentlicht in: Journal of plant physiology (2012)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

  20. 20
    Extensive coupling of alternative splicing of pre-mRNAs of serine/arginine (SR) genes with nonsense-mediated decay
    von Palusa, Saiprasad G
    Veröffentlicht in: The New phytologist (2010)
    Schlagworte: “...NLM Codon, Nonsense...”

    Online-Aufsatz

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