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LUPSKI, JAMES
One or more keywords matched the following items that are connected to
LUPSKI, JAMES
Item Type
Name
Academic Article
COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast.
Academic Article
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Academic Article
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Academic Article
Genome structural variation and sporadic disease traits.
Academic Article
Inverted low-copy repeats and genome instability--a genome-wide analysis.
Concept
Situs Inversus
Concept
Chromosome Inversion
Academic Article
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Academic Article
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Academic Article
Mechanisms for Complex Chromosomal Insertions.
Grant
Molecular basis of the craniofacial anomalies in SMS
Grant
STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
Grant
ABCR, Macular Dystrophies and Degeneration
Grant
COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
Academic Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Academic Article
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
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