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Respiratory Research, ISSN 1465-9921, 01/2013, Volume 14, Issue 1, pp. 3 - 3
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 148 - 154
ABSTRACT Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss,... 
EFTUD2 | microcephaly | mandibulofacial dysostosis Guion‐Almeida type | mandibulofacial dysostosis | MFDM | mandibulofacial dysostosis with microcephaly | Mandibulofacial dysostosis with microcephaly | Microcephaly | Mandibulofacial dysostosis Guion-Almeida type | Mandibulofacial dysostosis | mandibulofacial dysostosis Guion-Almeida type | ESOPHAGEAL ATRESIA | COMPLEX | PROTEIN | MENTAL-RETARDATION | TREACHER-COLLINS-SYNDROME | PHENOTYPES | EFTUD2 MUTATIONS | HAPLOINSUFFICIENCY | SNRNP | CHOANAL ATRESIA | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Hearing Loss - diagnosis | Microcephaly - genetics | Spliceosomes - genetics | Humans | Mandibulofacial Dysostosis - pathology | Databases, Genetic | Molecular Sequence Data | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Mandibulofacial Dysostosis - genetics | RNA Splicing | Mandibulofacial Dysostosis - diagnosis | Microcephaly - pathology | Peptide Elongation Factors - genetics | Abnormalities, Multiple - genetics | Protein Structure, Tertiary | Gene Expression | Protein Structure, Secondary | Intellectual Disability - pathology | Microcephaly - diagnosis | Models, Molecular | Penetrance | Hearing Loss - pathology | Amino Acid Motifs | Haploinsufficiency | Hearing Loss - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Mutation | Boycotts | Databases | Lubrication and lubricants | Genomics | Genetic disorders
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 907 - 914
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Journal Article
Human Genetics, ISSN 0340-6717, 6/2015, Volume 134, Issue 6, pp. 553 - 568
Journal Article