Showing 261 - 280 results of 986 for search '"Genetics"', query time: 0.07s Refine Results
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    Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

    Published 2024-09-01
    “…Abstract Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. …”
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    Evaluation of insertion and deletion polymorphisms of Brazilian Odontoceti by Dafne Adriana Abreu dos Anjos, Anna Luiza dos Santos Donato, Rodrigo Goldenberg-Barbosa, Elizeu Fagundes de Carvalho, Cesar Rogerio Leal do Amaral

    Published 2023-07-01
    “… Brazilian Odontoceti strandings provide substantial information about distribution, health, and genetics of this suborder. Moreover, molecular identification is required and studies in this area have been developed to clarify their distribution and phylogeny, since morphological identification may be infeasible in some degraded samples. …”
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    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

    Published 2025-04-01
    “…Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities. Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. …”
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