Frederike Leonie Harms
6PUBLICATIONS
47CO-AUTHORS
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Publications (6)
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|Jul 21, 2025
Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau
|Mar 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.Frederike L Harms, Christian Müller, Fanny Kortüm
|Nov 05, 2024
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.Loisa Dana Bonde, Ibrahim M Abdelrazek, Lara Seif
|Feb 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou
|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Camille Engel, Stéphanie Valence, Geoffroy Delplancq
|Jun 16, 2021
Functional analysis of CASK transcript variants expressed in human brain.Debora Tibbe, Yingzhou Edward Pan, Carsten Reißner
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Frequent Collaborators
3 joint publications
Kerstin Kutsche
2 joint publications
Fowzan S Alkuraya
2 joint publications
Maha S Zaki
1 joint publications
Hans-Jürgen Kreienkamp
1 joint publications
Camille Engel
1 joint publications
Stéphanie Valence
1 joint publications
Mathilde Becmeur-Lefebvre
1 joint publications
Enrico Bertini
1 joint publications
Daniel Tegtmeyer
1 joint publications
Ange-Line Bruel
