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Journal Article
Genetics and Molecular Research, ISSN 1676-5680, 03/2016, Volume 15, Issue 1
Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to... 
Wholeexome sequencing | Spondyloepiphyseal dysplasia congenita | COL2A1 | Whole-exome sequencing | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2015, Volume 17, Issue 4, pp. 300 - 306
Journal Article
Journal Article
Human Genomics, ISSN 1473-9542, 01/2018, Volume 12, Issue 1, pp. 3 - 8
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 11/2014, Volume 73, Issue 11, pp. 1009 - 1025
ABSTRACTPontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and... 
RARS2 | Pontocerebellar hypoplasia | PCH6 | Wholeexome Sequencing | MIGRATION | CELLS | VARIANTS | Whole-exome sequencing | MECHANISMS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | MUTATIONS | BRAIN | Olivopontocerebellar Atrophies - pathology | Olivopontocerebellar Atrophies - genetics | Humans | Brain - pathology | Female | Infant | Male | Twins, Dizygotic - genetics
Journal Article
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