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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
Overview
Publications
(514)
Research Grants
(37)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Authored book
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Translation
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Thesis
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Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation (2019)
Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, et al.
Journal article
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019)
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al.
Journal article
Generation and Validation of Human Pluripotent Stern Cell Disease Models Using CRISPR/Cas9 Genome Engineering (2019)
Turan S, Kavyanifar A, Wend H, Pozner T, Loskam S, Kaindl J, Lanfer J, et al.
Conference contribution
Tyrosinase is a novel endogenous inhibitor of lymphangiogenesis (2019)
Clahsen T, Büttner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C
Conference contribution
Disease Modeling of Neuropsychiatric Brain Disorders Using Human Stem Cell-Based Neural Models (2019)
Kaindl J, Winner B
Book chapter / Article in edited volumes
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019)
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al.
Journal article, Erratum
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) (2019)
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al.
Journal article, Erratum
Artificial light at night affects brain plasticity and melatonin in birds (2019)
Moaraf S, Vistoropsky Y, Pozner T, Heiblum R, Okuliarová M, Zeman M, Barnea A
Journal article
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019)
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al.
Journal article
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019)
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al.
Journal article
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