Brigitte Pabst
Hannover, NI, Germany
Last Updated: 09/26/2026
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Found 9 publications
Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry.
Journal: International journal of cardiology
Published: January 05, 2023
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Journal: Clinical genetics
Published: February 11, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Journal: American journal of medical genetics. Part A
Published: October 01, 2018
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Journal: Breast cancer research and treatment
Published: April 30, 2018
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.
Journal: European journal of human genetics : EJHG
Published: March 31, 2016
Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
Journal: European journal of human genetics : EJHG
Published: November 11, 2013
Expansion of recipient-derived antiviral T cells may influence donor chimerism after allogeneic stem cell transplantation.
Journal: Transplant infectious disease : an official journal of the Transplantation Society
Published: July 24, 2012
Sequential anti-cytomegalovirus response monitoring may allow prediction of cytomegalovirus reactivation after allogeneic stem cell transplantation.
Journal: PloS one
Published: March 30, 2012
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Last Updated: 09/26/2026