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Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 3, pp. 359 - 364
Journal Article
by Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and De Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and Bönnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C and Andrews, Caroline V and Barry, Brenda J and Hunter, David G and Mackinnon, Sarah E and Shaaban, Sherin and Erazo, Monica and Frempong, Tamiesha and Hao, Ke and Naidich, Thomas P and Rucker, Janet C and Zhang, Zhongyang and Biesecker, Barbara B and Bonnycastle, Lori L and Brewer, Carmen C and Brooks, Brian P and Butman, John A and Chien, Wade W and Farrell, Kathleen and FitzGibbon, Edmond J and Gropman, Andrea L and Hutchinson, Elizabeth B and Jain, Minal S and King, Kelly A and Lehky, Tanya J and Lee, Janice and Liberton, Denise K and Narisu, Narisu and Paul, Scott M and Sadeghi, Neda and Snow, Joseph and Solomon, Beth and Summers, Angela and Toro, Camilo and Thurm, Audrey and Zalewski, Christopher K and Moebius Syndrome Res Consortium and Moebius Syndrome Research Consortium
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, p. 16077
Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 1011 - 1020
Journal Article
Journal of Pediatrics, ISSN 0022-3476, 2012, Volume 160, Issue 4, pp. 645 - e2
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2015, Volume 88, Issue 5, pp. 405 - 415
The spliceosome is a large ribonucleoprotein complex that removes introns from pre‐ mRNA transcripts. Mutations in EFTUD2 , encoding a component of the major... 
mandibulofacial dysostosis | congenital malformations | spliceosome | craniofacial | Spliceosome | Craniofacial | Congenital malformations | Mandibulofacial dysostosis | ESOPHAGEAL ATRESIA | MENTAL-RETARDATION | DEVELOPMENTAL DISORDER | AUTOSOMAL RECESSIVE INHERITANCE | COSTO-MANDIBULAR SYNDROME | DOMINANT RETINITIS-PIGMENTOSA | MESSENGER-RNA | CHOANAL ATRESIA | GENETICS & HEREDITY | OTO-FACIAL SYNDROME | RNA-Binding Proteins - genetics | Clubfoot - metabolism | Deafness - genetics | Spliceosomes - genetics | Humans | Male | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Ribs - abnormalities | Clubfoot - genetics | Heart Defects, Congenital - genetics | Micrognathism - metabolism | Spliceosomes - metabolism | Mandibulofacial Dysostosis - genetics | Ribs - metabolism | Facies | Hand Deformities, Congenital - metabolism | Female | Peptide Elongation Factors - genetics | Eukaryotic Initiation Factor-4A - genetics | Choanal Atresia - genetics | Micrognathism - genetics | RNA Splicing Factors | Pierre Robin Syndrome - metabolism | DEAD-box RNA Helicases - genetics | Choanal Atresia - metabolism | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Deafness - metabolism | Heart Defects, Congenital - metabolism | Mandibulofacial Dysostosis - metabolism | Mutation | Deafness - congenital | Genetic disorders | Defects
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. 2763 - 2771
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 120 - 128
Journal Article