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Institute of Human Genetics
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Overview
Publications
(729)
Research Grants
(48)
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Journal article
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Bone marrow-derived myeloid progenitors in the leptomeninges of adult mice (2020)
Koeniger T, Bell L, Mifka A, Enders M, Hautnnann V, Mekala SR, Kirchner P, et al.
Journal article
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants (2020)
Souzeau E, Siggs OM, Pasutto F, Knight LSW, Perez-Jurado LA, Mcgregor L, Le Blanc S, et al.
Journal article
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020)
Polla DL, Bhoj EJ, Verheij JB, Wassink-Ruiter JS, Reis A, Deshpande C, Gregor A, et al.
Journal article
Regulatory eosinophils induce the resolution of experimental arthritis and appear in remission state of human rheumatoid arthritis (2020)
Andreev D, Liu M, Kachler K, Llerins Perez M, Kirchner P, Kölle J, Gießl A, et al.
Journal article
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020)
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al.
Journal article
Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria (2020)
Pretscher J, Rübner M, Ekici AB, Rödl M, Hübner H, Schwitulla J, Titzmann A, et al.
Journal article
β-catenin signaling modulates the tempo of dendritic growth of adult-born hippocampal neurons (2020)
Heppt J, Wittmann MT, Schäffner I, Billmann C, Zhang J, Vogt-Weisenhorn D, Prakash N, et al.
Journal article
A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy (2020)
Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C
Journal article
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder (2020)
Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C
Journal article
Genetic variants in the glucocorticoid pathway genes and birth weight (2020)
Schneider M, Hübner T, Pretscher J, Goecke TW, Schwitulla J, Häberle L, Kornhuber J, et al.
Journal article
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