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Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1875 - 1881
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 615 - 626
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 2018, Volume 156, Issue 2, pp. 71 - 79
We report on a female patient who was first evaluated at the age of 6 years with developmental delay, dysmorphic facial features, seizures, and autistic... 
MICRODUPLICATION | MENTAL-RETARDATION | GENE | GENETICS & HEREDITY | SHOX | Late replicating chromatin technique | XIST | CHROMOSOME-INACTIVATION | GIRL | Haploinsufficiency | CYTOGENETIC ANALYSIS | CELL BIOLOGY
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2018, Volume 84, Issue 5, pp. 638 - 647
Journal Article
The EMBO Journal, ISSN 0261-4189, 12/2018, Volume 37, Issue 23, p. n/a
Journal Article
Human Genetics, ISSN 0340-6717, 9/2018, Volume 137, Issue 9, pp. 753 - 768
Journal Article