Associated Papers
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.
Zhai Y et al.
American Journal of Medical Genetics. Part A, 2024
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L et al.
Ophthalmic Genetics, 2022
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD et al.
Ophthalmic Genetics, 2021
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