Hildegard Kehrer-Sawatzki
14PUBLICATIONS
7CO-AUTHORS
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Publications (14)
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|Sep 09, 2023
Identification of an NF1 Microdeletion with Optical Genome Mapping.Gergely Büki, Anna Bekő, Csaba Bödör
|Dec 20, 2021
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.Hildegard Kehrer-Sawatzki, David N Cooper
|Oct 23, 2021
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.Hildegard Kehrer-Sawatzki, Ute Wahlländer, David N Cooper
|Sep 18, 2021
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.Hildegard Kehrer-Sawatzki, David N Cooper
|Jun 14, 2020
Clinical characterization of children and adolescents with NF1 microdeletions.Hildegard Kehrer-Sawatzki, Lan Kluwe, Johannes Salamon
|Apr 06, 2020
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.Lan Kluwe, Reinhard E Friedrich, Said C Farschtschi
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