Ana C. Krepischi

Travessa, SP 05508090, Brazil

Last Updated: 09/26/2026

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Found 10 publications

Functional assessment of donated human embryos for the generation of pluripotent embryonic stem cell lines.

Functional assessment of donated human embryos for the generation of pluripotent embryonic stem cell lines.

Journal: Reproductive biomedicine online

Published: August 16, 2022

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Journal: The application of clinical genetics

Published: September 04, 2018

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.

Journal: Human genome variation

Published: November 18, 2017

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Journal: Clinical endocrinology

Published: August 18, 2017

Genomic copy number alterations in non-syndromic hearing loss.

Genomic copy number alterations in non-syndromic hearing loss.

Journal: Clinical genetics

Published: August 01, 2015

Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia.

Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia.

Journal: BMC medical genomics

Published: October 23, 2014

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Journal: BMC medical genetics

Published: December 17, 2013

An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.

An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.

Journal: PloS one

Published: May 16, 2013

Number of rare germline CNVs and TP53 mutation types.

Number of rare germline CNVs and TP53 mutation types.

Journal: Orphanet journal of rare diseases

Published: May 11, 2012

Germline DNA copy number variation in familial and early-onset breast cancer.

Germline DNA copy number variation in familial and early-onset breast cancer.

Journal: Breast cancer research : BCR

Published: August 12, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026