... 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 ...

... 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 ...

... 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 ...

... 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 ...

... 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 ...

... 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 ...

... 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 ...

... 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 ...

... needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by ...

... a result, the production of thyroid hormones is absent or reduced, leading to the features of congenital ...