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Svenja Alter (Rademacher)
Svenja Alter (Rademacher)
Universitätsklinikum Freiburg
Verified email at uniklinik-freiburg.de
Title
Cited by
Cited by
Year
Egg cell–secreted EC1 triggers sperm cell activation during double fertilization
S Sprunck, S Rademacher, F Vogler, J Gheyselinck, U Grossniklaus, ...
Science 338 (6110), 1093-1097, 2012
3202012
Zygotic resetting of the HISTONE 3 variant repertoire participates in epigenetic reprogramming in Arabidopsis
M Ingouff, S Rademacher, S Holec, L Šoljić, N Xin, A Readshaw, SH Foo, ...
Current Biology 20 (23), 2137-2143, 2010
2452010
A General G1/S-Phase Cell-Cycle Control Module in the Flowering Plant Arabidopsis thaliana
XA Zhao, H Harashima, N Dissmeyer, S Pusch, AK Weimer, J Bramsiepe, ...
Public Library of Science 8 (8), e1002847, 2012
1282012
The beginning of a seed: regulatory mechanisms of double fertilization
A Bleckmann, S Alter, T Dresselhaus
Frontiers in plant science 5, 102751, 2014
932014
DroughtDB: an expert-curated compilation of plant drought stress genes and their homologs in nine species
S Alter, KC Bader, M Spannagl, Y Wang, E Bauer, CC Schön, KFX Mayer
Database 2015, bav046, 2015
922015
Stable Carbon Isotope Discrimination Is under Genetic Control in the C4 Species Maize with Several Genomic Regions Influencing Trait Expression
S Gresset, P Westermeier, S Rademacher, M Ouzunova, T Presterl, ...
Plant Physiology 164 (1), 131-143, 2014
432014
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
A Hotz, E Bourrat, J Küsel, V Oji, S Alter, L Hake, M Korbi, H Ott, I Hausser, ...
Human mutation 39 (10), 1305-1313, 2018
352018
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
A Hotz, J Kopp, E Bourrat, V Oji, K Komlosi, K Giehl, B Bouadjar, A Bygum, ...
Genes 12 (1), 80, 2021
272021
Downregulation of egg cell-secreted EC1 is accompanied with delayed gamete fusion and polytubey
S Rademacher, S Sprunck
Plant signaling & behavior 8 (12), e27377, 2013
262013
A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family
CR Glöcklhofer, J Steinfurt, G Franke, A Hoppmann, T Glantschnig, ...
Ep Europace 20 (12), 2003-2013, 2018
192018
SUPPRESSOR OF FRIGIDA (SUF4) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene Expression
F Resentini, P Cyprys, JG Steffen, S Alter, P Morandini, C Mizzotti, A Lloyd, ...
Plant Physiology 173 (1), 155-166, 2017
182017
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
N Ballin, A Hotz, E Bourrat, J Küsel, V Oji, B Bouadjar, D Brognoli, ...
Human Mutation 40 (12), 2318-2333, 2019
122019
Neonatal presentation of COG6‐CDG with prominent skin phenotype
K Komlosi, S Gläser, J Kopp, A Hotz, S Alter, AD Zimmer, C Beger, ...
JIMD reports 55 (1), 51-58, 2020
102020
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
L Heinz, E Bourrat, P Vabres, J Thevenon, A Hotz, S Hörer, J Küsel, ...
British Journal of Dermatology 180 (3), 657-661, 2019
92019
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome
S Alter, A Hotz, A Jahn, N Di Donato, E Schröck, M Smitka, ...
American Journal of Medical Genetics Part A 176 (12), 2862-2866, 2018
92018
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1
S Alter, AD Zimmer, M Park, J Gong, A Caliebe, R Fölster-Holst, A Torrelo, ...
Journal of Medical Genetics 58 (6), 415-421, 2021
82021
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
A Hotz, J Kopp, E Bourrat, V Oji, K Süßmuth, K Komlosi, B Bouadjar, ...
Genes 14 (3), 717, 2023
42023
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans
S Jägle, HH Hsu, HA Juratli, AD Zimmer, A Prieschl, S Alter, ...
British Journal of Dermatology 188 (1), 94-99, 2023
32023
Case report: Diagnostic and therapeutic challenges in severe mechanobullous epidermolysis bullosa acquisita
F Schauer, A Nyström, M Kunz, S Hübner, S Scholl, I Athanasiou, S Alter, ...
Frontiers in Immunology 13, 883967, 2022
32022
Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
T Göbel, L Berninger, A Schlump, B Feige, K Runge, K Nickel, MA Schiele, ...
Journal of Neural Transmission 129 (11), 1387-1391, 2022
22022
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