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Supplementary Material for: A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism
Publicado 2025“...Introduction: Complex chromosomal rearrangements (CCRs) are constitutive structural aberrations involving three or more chromosomal breaks on three or more chromosomes resulting of complex events such as fork stalling and template switching, microhomology-mediated break-induced repair, or breakage-fusion-bridge cycles. ...”
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Complex rearrangements involving <i>PLP1</i> have clustered breakpoints in IRs.
Publicado 2015“...<p><b>A</b>) 17 individuals are depicted with schematics of their array results. Duplications are indicated in red, triplications are indicated in blue, and the quadruplication is indicated in gold. ...”
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Changes in outcome measures across placebo and testosterone arms and the open label extension arm.
Publicado 2023Subjects: -
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Illustration of the result of the 3D human skeleton for flexion of the upper arm in the first data set.
Publicado 2025“...<p>Illustration of the result of the 3D human skeleton for flexion of the upper arm in the first data set....”
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Illustration of the 3D human skeleton result of flexion of the upper arm in the second data set.
Publicado 2025“...<p>Illustration of the 3D human skeleton result of flexion of the upper arm in the second data set....”
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Distributions of modulation captured by units with different arm preferences.
Publicado 2021Subjects: -
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Results for each experimental case (as numbered in Fig 3 with their respective color).
Publicado 2022Subjects: -
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