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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
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Publications
(514)
Research Grants
(37)
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Journal article
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SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres (2024)
Bolsinger M, Drobny A, Wilfling S, Reischl S, Krach F, Moritz R, Balta D, et al.
Journal article
Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer (2024)
Zhang S, Yun D, Yang H, Eckstein M, Elbait GD, Zhou Y, Lu Y, et al.
Journal article
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation (2024)
Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, et al.
Journal article
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline (2024)
Wopperer F, Olinger E, Wiesener A, Broeker KA, Knaup K, Schaefer JT, Galiano M, et al.
Journal article
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024)
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al.
Journal article
Pathogenic PHIP Variants are Variably Associated With CAKUT (2024)
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, et al.
Journal article
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024)
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al.
Journal article
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO). (2024)
Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, et al.
Journal article
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024)
Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al.
Journal article
Increased PD-1 Expression on Circulating T Cells Correlates with Inferior Outcome after Autologous Stem Cell Transplantation (2024)
Richter S, Böttcher M, Stoll A, Zeremski V, Völkl S, Mackensen A, Ekici AB, et al.
Journal article
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