„Mutations“
Suchergebnisse
10.000+ Treffer
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Selection on Length Mutations After Frameshift Can Explain the Origin and Retention of the AP3/DEF-Like Paralogues in Impatiens
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Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations
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Reliance upon ancestral mutations is maintained in colorectal cancers that heterogeneously evolve during targeted therapies
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Different Phenotypes Including Gynecological Cancer in Three Female Patients with Peutz-Jeghers Syndrome and Mutations in the STK11 Gene
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Association of TP53 mutations with TP53 codon 72 polymorphism and outcome in triple-negative breast cancer
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Single Peptide Backbone Surrogate Mutations to Regulate Angiotensin GPCR Subtype Selectivity
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Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism
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Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome
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Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A
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Calreticulin Mutations in Bulgarian MPN Patients
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The role of hereditary KCNQ1 mutations in water-related death
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Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
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Impact of gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) on glucose and lipid homeostasis
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MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
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Molecular characterization of Infectious Bursal Disease Virus isolated in Chile reveals several mutations in VP2 coding region and a reassortment in its genome
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Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
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Prevalence of IDH1/IDH2 Mutations in Adult Indian Acute Myeloid Leukaemia Patients and Their Impact on Outcome
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Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
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SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
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An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease