Wissenschaftliche Publikationen | Max Delbrück Center

320 Ergebnisse:

28. Oktober 2020 / J Genet Genomics

Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation

X. Su
Y. Feng
S.A. Rahman
S. Wu
G. Li
F. Rüschendorf
L. Zhao
H. Cui
J. Liang
L. Fang
H. Hu
S. Froehler
Y. Yu
G. Patone
O. Hummel
Q. Chen
K. Raile
F.C. Luft
S. Bähring
K. Hussain
W. Chen
J. Zhang
M. Gong

19. September 2019 / Rev Neurosci

Could electrical coupling contribute to the formation of cell assemblies?

R.D. Traub
M.A. Whittington
N. Maier
D. Schmitz
J.I. Nagy

07. Januar 2005 / Am J Respir Crit Care Med

Genomewide linkage analysis identifies novel genetic loci for lung function in mice

C. Reinhard
B. Meyer
H. Fuchs
T. Stoeger
G. Eder
F. Rueschendorf
J. Heyder
P. Nuernberg
M. Hrabe de Angelis
H. Schulz

01. Oktober 2002 / Hum Genet

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

G. Stoeber
D. Seelow
F. Rueschendorf
A. Ekici
H. Beckmann
A. Reis

01. Oktober 2002 / Epilepsy Res

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

T. Sander
M.R. Toliat
A. Heils
G. Leschik
C. Becker
F. Rueschendorf
K. Rohde
S. Mundlos
P. Nuernberg

01. Februar 2003 / Pediatrics

Genome scan for childhood and adolescent obesity in German families

K. Saar
F. Geller
F. Rueschendorf
A. Reis
S. Friedel
N. Schaeuble
P. Nuernberg
W. Siegfried
H.P. Goldschmidt
H. Schaefer
A. Ziegler
H. Remschmidt
A. Hinney
J. Hebebrand

01. Oktober 2006 / Am J Med Genet A

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

A. Rauch
J. Hoyer
S. Guth
C. Zweier
C. Kraus
C. Becker
M. Zenker
U. Hueffmeier
C. Thiel
F. Rueschendorf
P. Nuernberg
A. Reis
U. Trautmann

01. Oktober 2006 / Am J Hum Genet

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p

M.A. Lee-Kirsch
M. Gong
H. Schulz
F. Rüschendorf
A. Stein
C. Pfeiffer
A. Ballarini
M. Gahr
N. Hubner
M. Linne

01. Oktober 2006 / J Allergy Clin Immunol

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march

I. Marenholz
R. Nickel
F. Rueschendorf
F. Schulz
J. Esparza-Gordillo
T. Kerscher
C. Grueber
S. Lau
M. Worm
T. Keil
M. Kurek
E. Zaluga
U. Wahn
Y.A. Lee

01. November 2006 / Nat Genet

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

D.C. Blaydon
Y. Ishii
E.A. O'Toole
H.C. Unsworth
M.T. Teh
F. Rueschendorf
C. Sinclair
V.K. Hopsu-Havu
N. Tidman
C. Moss
R. Watson
D. de Berker
M. Wajid
A.M. Christiano
D.P. Kelsell