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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2016, Volume 119, Issue 1-2, pp. 83 - 90
Journal Article
Developmental Biology, ISSN 0012-1606, 07/2016, Volume 415, Issue 2, pp. 371 - 382
Mandibulofacial dysostosis (MFD) is a human developmental disorder characterized by defects of the facial bones. It is the second most frequent craniofacial... 
Xenopus | Sf3b4 | BMP | Nager syndrome | Craniofacial | Neural crest | Splicing factor | AUTOSOMAL RECESSIVE INHERITANCE | TREACHER-COLLINS-SYNDROME | DEVELOPMENTAL BIOLOGY | INDUCTION | GENE | CRANIAL NEURAL CREST | BMPR-IA | FACIAL DYSOSTOSES | RETINITIS-PIGMENTOSA | ACROFACIAL DYSOSTOSIS | Frameshift Mutation | Mandibulofacial Dysostosis - embryology | Xenopus Proteins - genetics | Cartilage - pathology | Humans | Gene Expression Regulation, Developmental - genetics | Molecular Sequence Data | Genetic Complementation Test | Gene Knockdown Techniques | Neural Crest - metabolism | Mandibulofacial Dysostosis - genetics | RNA Splicing - genetics | Skull - abnormalities | RNA Precursors - metabolism | Xenopus Proteins - biosynthesis | Xenopus laevis - genetics | Xenopus laevis - growth & development | Neural Plate - pathology | Maxillofacial Development - genetics | Disease Models, Animal | Amino Acid Sequence | Cartilage - growth & development | Neural Crest - cytology | Xenopus laevis - embryology | Branchial Region - metabolism | Mandibulofacial Dysostosis - physiopathology | RNA Precursors - genetics | Codon, Nonsense | RNA Splicing Factors - genetics | Cartilage - metabolism | Sequence Homology, Amino Acid | Skull - embryology | Phenotype | Sequence Alignment | Animals | Xenopus Proteins - deficiency | Neural Crest - embryology | Neural Plate - embryology | Morpholinos - pharmacology | Xenopus Proteins - physiology | Branchial Region - pathology | Skull - growth & development | Branchial Region - embryology | Medicine, Experimental | Medical research | Embryonic development | RNA | Gene expression
Journal Article
European Archives of Oto-Rhino-Laryngology, ISSN 0937-4477, 11/2013, Volume 270, Issue 11, pp. 2879 - 2884
Although the relationship between Quality of Life (QoL) and obstructive sleep apnea (OSA) has been reported in several studies, little is known about this... 
Treacher Collins syndrome | Health-related quality of life | Medicine & Public Health | Head and Neck Surgery | Otorhinolaryngology | Sleep apnea | Neurosurgery | IQOLA PROJECT | TESTS | HEART HEALTH | SCALING ASSUMPTIONS | RELIABILITY |