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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
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
Academic Article
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.
Concept
Hand Deformities, Congenital
Academic Article
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Grant
A GENETIC APPROACH TO THE ROLE OF CYP1B1 IN PCG
Academic Article
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Search Criteria
Hand