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List of works by Catarina M Seabra

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

scientific article published on 16 May 2014

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

scientific article published on 10 July 2017

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

scientific article

Effects of a New Bioceramic Material on Human Apical Papilla Cells

scientific article published on 16 December 2018

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

scientific article published on February 2016

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

scientific article

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The mutational spectrum of WT1 in male infertility.

scientific article published on 11 November 2014

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