Woman reading in MDC library

Veröffentlichungen

24 Ergebnisse:
Active Filter:
Sortieren:
in HGG Advances

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

  • M. Asif
  • E. Kaygusuz
  • M. Shinawi
  • A. Nickelsen
  • T.C. Hsieh
  • P. Wagle
  • B. Budde
  • J. Hochscherf
  • U. Abdullah
  • S. Höning
  • C. Nienberg
  • D. Lindenblatt
  • A.A. Noegel
  • J. Altmüller
  • H. Thiele
  • S. Motameny
  • N. Fleischer
  • I. Segal
  • L. Pais
  • S. Tinschert
  • N.G. Samra
  • J.M. Savatt
  • N.L. Rudy
  • C. De Luca
  • P. Fortugno
  • S.M. White
  • P. Krawitz
  • A.C.E. Hurst
  • K. Niefind
  • J. Jose
  • F. Brancati
  • P. Nürnberg
  • M.S. Hussain
in Acta Physiol

Single cell‐ and spatial 'omics revolutionize physiology

  • T. Conrad
  • J. Altmüller
in J Mol Diagn

Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

  • N. Tschernoster
  • F. Erger
  • P.R. Walsh
  • B. McNicholas
  • M. Fistrek
  • S. Habbig
  • L. Schumacher
  • K. Folz-Donahue
  • C. Kukat
  • M.R. Toliat
  • C. Becker
  • H. Thiele
  • D. Kavanagh
  • P. Nürnberg
  • B. Beck
  • J. Altmüller
in J Med Genet

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

  • G. Yigit
  • R. Sheffer
  • M. Daana
  • Y. Li
  • E. Kaygusuz
  • H. Mor-Shakad
  • J. Altmüller
  • P. Nürnberg
  • L. Douiev
  • S. Kaulfuss
  • P. Burfeind
  • B. Wollnik
  • K. Brockmann
in EMBO J

Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay

  • D. Wallmeroth
  • J.W. Lackmann
  • S. Kueckelmann
  • J. Altmüller
  • C. Dieterich
  • V. Boehm
  • N.H. Gehring
in Genome Biol

RNA modification mapping with JACUSA2

  • M. Piechotta
  • I.S. Naarmann-de Vries
  • Qi Wang
  • J. Altmüller
  • C. Dieterich
in Eur J Hum Genet

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

  • M.S. Reuter
  • M. Zech
  • M. Hempel
  • J. Altmüller
  • T. Heung
  • L. Pölsler
  • R. Santer
  • H. Thiele
  • B. Trost
  • C. Kubisch
  • S.W. Scherer
  • S. Rudnik-Schöneborn
  • A.S. Bassett
  • D. Lessel
in Clin Genet

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

  • I.I. Gönenc
  • N.H. Elcioglu
  • C. Martinez Grijalva
  • S. Aras
  • N. Großmann
  • I. Praulich
  • J. Altmüller
  • S. Kaulfuß
  • Y. Li
  • P. Nürnberg
  • P. Burfeind
  • G. Yigit
  • B. Wollnik
in Cancer Res

Noncanonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia

  • T. Braun
  • J. Stachelscheid
  • N. Bley
  • S. Oberbeck
  • M. Otte
  • T.A. Müller
  • L. Wahnschaffe
  • M. Glaß
  • K. Ommer
  • M. Franitza
  • B. Gathof
  • J. Altmüller
  • M. Hallek
  • D. Auguin
  • S. Hüttelmaier
  • A. Schrader
  • M. Herling
in Nephrol Dial Transplant

Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis

  • E. Leenen
  • F. Erger
  • J. Altmüller
  • A. Wenzel
  • H. Thiele
  • A. Harth
  • N. Tschernoster
  • S. Lokhande
  • A. Joerres
  • J.U. Becker
  • A. Ekici
  • B. Huettel
  • B. Beck
  • A. Weidemann