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American Journal of Human Genetics, ISSN 0002-9297, 10/2010, Volume 87, Issue 4, p. 532
Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes... 
Musculoskeletal diseases | Proteins | Genomics | Mutation | Gene expression | Cells | Binding sites
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2009, Volume 84, Issue 3, p. 307
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the... 
Calcium | Genes | Bones | Mutation | Bone diseases
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 711 - 719
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 5, pp. 708 - 712
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, p. 711
  The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation... 
Brain | Biological variation | Zebrafish | Learning disabilities | Mutation | Ribonucleic acid--RNA | Metabolism
Journal Article
01/2002, ISBN 0493318534
Fructose is an important carbon source for gluconeogenesis, lipid metabolism, fertilization, the fetus, and treatment for diabetics. Since 1967, fructose has... 
Molecular biology
Dissertation
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