檢索結果 - Alison Brebner

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    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities 由 Anita M. Quintana, Hung‐Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu‐Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh

    出版 2017
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    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 由 Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh

    出版 2013
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    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients 由 Jean‐Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Trésarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David‐Alexandre Trégouët, Benjamin A. Raby, Wendy K. Chung, Pierre‐Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean‐François Benoist, Can Fıçıcıoğlu, Virginie Marchand, Yuri Motorin, C. Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt

    出版 2017
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