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2013
Mark Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Sen, Partha ; Yang, Yaping ; Navarro, Colby ; Silva, Iris ; Szafranski, Przemyslaw ; Kolodziejska, Katarzyna E. ; Dharmadhikari, Avinash V. ; Mostafa, Hasnaa ; Kozakewich, Harry and Kearney, Debra , et al. (2013) In Human Mutation 34(6). p.801-811
- Contribution to journal › Article
2012
Mark Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
Bower, Matthew ; Salomon, Rémi ; Allanson, Judith ; Antignac, Corinne ; Benedicenti, Francesco ; Benetti, Elisa ; Binenbaum, Gil ; Jensen, Uffe B ; Cochat, Pierre and DeCramer, Stephane , et al. (2012) In Human Mutation 33(3). p.66-457
- Contribution to journal › Article
2008
Mark Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity
Pace, Rishika A. ; Peat, Rachel A. ; Baker, Naomi L. ; Zamurs, Laura ; Mörgelin, Matthias ^LU ; Irving, Melita ; Adams, Naomi E. ; Bateman, John F. ; Mowat, David and Smith, Nicholas J. C. , et al. (2008) In Annals of Neurology 64(3). p.294-303
- Contribution to journal › Article