Associated Papers
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Keefer-Jacques E et al.
Hgg Advances, 2024
39244638 (PubMed )
Supplement: mmc3.pdf
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Moore I et al.
Blood, 2010
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