Last Updated: 09/26/2026
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Found 6 publications
Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations.
Journal: BMJ case reports
Published: February 02, 2018
CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.
Journal: Molecular cytogenetics
Published: May 31, 2017
The MDM4/MDM2-p53-IGF1 axis controls axonal regeneration, sprouting and functional recovery after CNS injury.
Journal: Brain : a journal of neurology
Published: December 22, 2014
Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.
Journal: Molecular cytogenetics
Published: March 13, 2014
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Journal: European journal of human genetics : EJHG
Published: September 17, 2013
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Last Updated: 09/26/2026