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Results 1 - 10 of 69 for Absent
  1. EYA1 gene 
    ... BOR/BO syndrome. BOP BOR EYA1_HUMAN eyes absent 1 eyes absent homolog 1 (Drosophila) eyes absent, Drosophila, homolog of, 1 Tests of EYA1 PubMed ... C. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  2. ASH1L gene 
    ... this complex condition. More About This Health Condition absent small and homeotic disks protein 1 homolog ASH1 ash1 (absent, small, or homeotic)-like ASH1-like protein ASH1L1 ...
    https://medlineplus.gov/genetics/gene/ash1l - Genetics
  3. PRKN gene 
    ... of these alterations, parkin activity is reduced or absent in these cells. Because parkin is thought to ... these somatic alterations, parkin activity is reduced or absent in affected cells. Because parkin is thought to ...
    https://medlineplus.gov/genetics/gene/prkn - Genetics
  4. FGF8 gene 
    ... s sense of smell will be impaired or absent. Misplacement or premature loss of GnRH-producing neurons ... development and causes puberty to be delayed or absent.Some people with Kallmann syndrome resulting from FGF8 ...
    https://medlineplus.gov/genetics/gene/fgf8 - Genetics
  5. RBM8A gene 
    ... needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by ...
    https://medlineplus.gov/genetics/gene/rbm8a - Genetics
  6. PROKR2 gene 
    ... s sense of smell will be impaired or absent. Misplacement or premature loss of GnRH-producing neurons ... development and causes puberty to be delayed or absent.Because the features and severity of Kallmann syndrome ...
    https://medlineplus.gov/genetics/gene/prokr2 - Genetics
  7. PROK2 gene 
    ... s sense of smell will be impaired or absent. Misplacement or premature loss of GnRH-producing neurons ... development and causes puberty to be delayed or absent.Because the features and severity of Kallmann syndrome ...
    https://medlineplus.gov/genetics/gene/prok2 - Genetics
  8. DNAI1 gene 
    ... children (infertility). DNAI1 gene mutations result in an absent or abnormal intermediate chain 1. Without a normal ... cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force ...
    https://medlineplus.gov/genetics/gene/dnai1 - Genetics
  9. DNAH5 gene 
    ... children (infertility). DNAH5 gene mutations result in an absent or abnormal heavy chain 5. Without a normal ... cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force ...
    https://medlineplus.gov/genetics/gene/dnah5 - Genetics
  10. TERC gene 
    ... mutations that cause dyskeratosis congenita result in an absent or unstable hTR molecule; others change the way ...
    https://medlineplus.gov/genetics/gene/terc - Genetics
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