Search Results - "Cavan, Barbra Charina V"

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 by Cavan, Barbra Charina V, de Castro-Hamoy, Leniza G, Abarquez, Conchita G, Maceda, Ebner Bon G, Alcausin, Maria Melanie Liberty B

“…Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic…”
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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing by Taube, Jennifer R, Sperle, Karen, Banser, Linda, Seeman, Pavel, Cavan, Barbra Charina V, Garbern, James Y, Hobson, Grace M

“…Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5' splice sites with the same…”
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AB059. The clinical profile and factors influencing loss to follow-up on the use of repeat otoacoustic emissions (OAE) and auditory brainstem response (ABR) among infants with refer results on newborn hearing screening at Cebu Doctors’ University Hospital by Dominguez, Ana Noelle M., Cavan, Barbra Charina V.

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