Caroline Scholz
Hannover, NI, Germany
Last Updated: 09/26/2026
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Found 8 publications
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Journal: American journal of human genetics
Published: July 16, 2019
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
Journal: International journal of cancer
Published: May 25, 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
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
Journal: Clinical genetics
Published: October 26, 2017
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Journal: European journal of medical genetics
Published: July 24, 2017
NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?
Journal: European journal of medical genetics
Published: March 04, 2016
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.
Journal: Journal of medical genetics
Published: November 28, 2015
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.
Journal: Molecular and cellular probes
Published: September 26, 2014
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Last Updated: 09/26/2026