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The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, p. 54
Journal Article
Journal Article
Paediatrics & Child Health, ISSN 1205-7088, 11/2017, Volume 22, Issue 8, pp. 445 - 453
Abstract Introduction Owing to the shared embryonic origin, defects in development of optic nerves are often seen in conjunction with defects affecting the... 
Septo-optic dysplasia | Poverty | Hypopituitarism | Blindness | Incidence | ABNORMALITIES | ENDOCRINE | HESX1 | RISK | PEDIATRICS | MUTATIONS | CHILDREN | Pediatrics | Eye diseases | Ethnicity | Genetic disorders | Northern communities | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
Journal Article
Clinical Biochemistry, ISSN 0009-9120, 10/2015, Volume 48, Issue 15, pp. 1018 - 1019
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, p. 894
  SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial... 
Dwarfism | Enzymes | Congenital diseases | Glycoproteins | Glycosylation | Biosynthesis
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, p. 886
  Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the... 
Proteins | Membranes | Homeostasis | Mutation | Cells | Public health
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2016, Volume 89, Issue 4, pp. 515 - 516
Journal Article
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