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Refinado por: autor: Beaulieu, C remover
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Matthew 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 Boycott

The American Journal of Human Genetics Chicago v. 90, n. 2, p. 369-377, Feb. 2012

Chicago 2012

Acesso online

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Material Type:
Artigo
Adicionar ao Meu Espaço

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Matthew 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 Boycott

The American Journal of Human Genetics Chicago v. 90, n. 2, p. 369-377, Feb. 2012

Chicago 2012

Acesso online

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