Showing 61 - 64 results of 64 for search '"Human Genomics"', query time: 0.03s Refine Results
  1. 61
    Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

    Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia by Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto

    Published 2024-08-01
    “…Human Genome Variation…”
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  2. 62
    Association of novel ERLIN2 gene variants with hereditary spastic paraplegia

    Association of novel ERLIN2 gene variants with hereditary spastic paraplegia by R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. S. Yamanaka, J. Piqueras Flores, J. M. Flores Barragán, E. Buces González, J. D. Arroyo Andújar

    Published 2025-01-01
    “…Human Genome Variation…”
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  3. 63
    Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

    Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

    Published 2024-08-01
    “…Human Genome Variation…”
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  4. 64
    A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

    A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant by Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

    Published 2024-08-01
    “…Human Genome Variation…”
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