Julia Baptista

Julia Baptista

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Julia Baptista

Julia Baptista

Publications by authors named "Julia Baptista"

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Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.

Eur J Med Genet 2020 Feb 23;63(2):103657. Epub 2019 Apr 23.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.04.014DOI Listing
February 2020

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.

Cell Stem Cell 2019 05 11;24(5):736-752.e12. Epub 2019 Apr 11.

Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany; Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), University of Cantabria, Cantabria, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2019.03.004DOI Listing
May 2019

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.

J Med Genet 2010 Feb 27;47(2):112-5. Epub 2009 Jul 27.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8TE, UK.

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http://dx.doi.org/10.1136/jmg.2009.069716DOI Listing
February 2010

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Eur J Hum Genet 2005 Nov;13(11):1205-12

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201488DOI Listing
November 2005