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The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 6, pp. 536 - 547
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 06/2014, Volume 1842, Issue 6, pp. 769 - 778
The skeleton affords a framework and structural support for vertebrates, while also facilitating movement, protecting vital organs, and providing a reservoir... 
Treacher Collins syndrome | Roberts syndrome | Skeletal development | Ribosome biogenesis | Shwachman–Diamond syndrome | Cartilage hair hypoplasia | Shwachman-Diamond syndrome | BLACKFAN ANEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CARTILAGE-HAIR HYPOPLASIA | TREACHER-COLLINS-SYNDROME | SHWACHMAN-DIAMOND-SYNDROME | SMALL-SUBUNIT PROCESSOME | CELL-CYCLE PROGRESSION | NUCLEOLAR PROTEIN TREACLE | BIOPHYSICS | TRANSCRIPTION FACTOR OSTERIX | EXTREME SHORT STATURE | L-LEUCINE IMPROVES | Exocrine Pancreatic Insufficiency - genetics | Immunologic Deficiency Syndromes - pathology | Osteochondrodysplasias - pathology | Hair - abnormalities | Humans | Mandibulofacial Dysostosis - pathology | Hirschsprung Disease - genetics | Ribosomes - metabolism | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Mandibulofacial Dysostosis - genetics | Osteochondrodysplasias - genetics | Bone Diseases, Developmental - metabolism | Lipomatosis - pathology | Skeleton | Anemia, Diamond-Blackfan - pathology | Hair - pathology | Exocrine Pancreatic Insufficiency - pathology | RNA, Messenger - genetics | Hirschsprung Disease - pathology | Bone Marrow Diseases - pathology | Lipomatosis - genetics | Bone Marrow Diseases - genetics | Ribosomes - genetics | Anemia, Diamond-Blackfan - genetics | Osteochondrodysplasias - congenital | Immunologic Deficiency Syndromes - genetics | Bone Development - genetics | Proteins | Biosynthesis | Endothelin | Genetic disorders | Analysis
Journal Article
British Journal of Haematology, ISSN 0007-1048, 03/2019, Volume 184, Issue 5, pp. 710 - 711
Journal Article
世界胃肠病学杂志:英文版, ISSN 1007-9327, 2016, Volume 22, Issue 34, pp. 7660 - 7675
Journal Article
Journal Article