Pricila Bernardi

SC, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Journal: Molecular biology of the cell

Published: June 17, 2026

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Journal: Molecular syndromology

Published: July 03, 2020

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.

Journal: Scientific reports

Published: June 04, 2019

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.

Journal: BMC medical genomics

Published: September 20, 2018

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Journal: Scientific reports

Published: February 07, 2018

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Journal: Molecular genetics & genomic medicine

Published: May 20, 2017

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

Journal: BMC medical genetics

Published: April 08, 2014

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: August 05, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026