Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A. Lines Lijia Huang; Jeremy Schwartzentruber; Stuart L Douglas; Danielle C Lynch; Chandree Beaulieu; Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Blanca Gener; Gabriele Gillessen-Kaesbach; Caroline Nava; Geneviève Baujat; Denise Horn; Usha Kini; Almuth Caliebe; Yasemin Alanay; Gulen Eda Utine; Dorit Lev; Jürgen Kohlhase; Arthur W Grix; Dietmar R Lohmann; Ute Hehr; Detlef Böhm FORGE Canada Consortium; Jacek Majewski; Dennis E Bulman; Dagmar Wieczorek; Kym M BoycottThe American Journal of Human Genetics Chicago v. 90, n. 2, p. 369-377, Feb. 2012Chicago 2012Acesso online |
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2 |
Material Type: Artigo
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A. Lines Lijia Huang; Jeremy Schwartzentruber; Stuart L Douglas; Danielle C Lynch; Chandree Beaulieu; Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Blanca Gener; Gabriele Gillessen-Kaesbach; Caroline Nava; Geneviève Baujat; Denise Horn; Usha Kini; Almuth Caliebe; Yasemin Alanay; Gulen Eda Utine; Dorit Lev; Jürgen Kohlhase; Arthur W Grix; Dietmar R Lohmann; Ute Hehr; Detlef Böhm FORGE Canada Consortium; Jacek Majewski; Dennis E Bulman; Dagmar Wieczorek; Kym M BoycottThe American Journal of Human Genetics Chicago v. 90, n. 2, p. 369-377, Feb. 2012Chicago 2012Acesso online |