FAU.de
Deutsch
Login
Home
Publications
Research Grants
Inventions & Patents
Awards
Additional Research Activities
Faculties & Institutions
Research Areas
Prof. Dr. André Wiesmann da Silva Reis
List of publications:
BibTeX-Download
Lehrstuhl für Humangenetik
Award(s)
(2)
Project Leads
(4)
Project Memberships
(2)
Publications
(219)
Types of publications
Toggle all
Journal article
Journal article
Book chapter / Article in edited volumes
Book chapter / Article in edited volumes
Authored book
Authored book
Translation
Translation
Thesis
Thesis
Edited Volume
Edited Volume
Conference contribution
Conference contribution
Other publication type
Other publication type
Unpublished / Preprint
Unpublished / Preprint
Publication year
From
To
Abstract
Journal
Filters (inactive)
Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022)
Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al.
Conference contribution
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders (2022)
Gumuslu E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici AB, Yildiz EP, et al.
Conference contribution
Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022)
Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al.
Conference contribution
De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022)
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al.
Journal article, Original article
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022)
Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al.
Journal article
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases (2022)
Wopperer F, Knaup K, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, et al.
Journal article
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021)
Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al.
Journal article
BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021)
Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al.
Journal article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Journal article
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation (2021)
Schwarz H, Popp B, Airik R, Torabi Sarijalo N, Knaup K, Stoeckert J, Wiech T, et al.
Journal article
‹
1
2
3
4
5
6
...
22
›