检索结果 - Taft, Ryan J.
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Congenital Sodium Diarrhea and Chorioretinal Coloboma with Optic Disc Coloboma in a Patient with Biallelic SPINT2 Mutations, including p.(Tyr163Cys) 由 Hirabayashi, Kristin E., Moore, Anthony T., Mendelsohn, Bryce A., Taft, Ryan J, Chawla, Aditi, Perry, Denise, Henry, Duncan, Slavotinek, Anne
出版 2018Text -
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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome 由 Muirhead, Kayla J., Clause, Amanda R., Schlachetzki, Zinayida, Dubbs, Holly, Perry, Denise L., Hagelstrom, R. Tanner, Taft, Ryan J., Vanderver, Adeline
出版 2021Text