Wissenschaftliche Publikationen | Max Delbrück Center

317 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

01. Dezember 2000 / Nat Genet

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21

Y.A. Lee
U. Wahn
R. Kehrt
L. Tarani
L. Businco
D. Gustafsson
F. Andersson
A.P. Oranje
A. Wolkertstorfer
A. von Berg
U. Hoffmann
W. Kuester
T.F. Wienker
F. Rueschendorf
A. Reis

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

01. Januar 2007 / Bioinformatics

Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE

J. Dietter
M. Mattheisen
R. Fuerst
F. Rueschendorf
T.F. Wienker
K. Strauch

01. März 2007 / Hum Genet

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

H. Najmabadi
M.M. Motazacker
M. Garshasbi
K. Kahrizi
A. Tzschach
W. Chen
F. Behjati
V. Hadavi
S.E. Nieh
S.S. Abedini
R. Vazifehmand
S.G. Firouzabadi
P. Jamali
M. Falah
S.M. Seifati
A. Grueters
S. Lenzner
L.R. Jensen
F. Rueschendorf
A.W. Kuss
H.H. Ropers

01. September 2007 / PLoS Biol

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis

C. Soederhaell
I. Marenholz
T. Kerscher
F. Rueschendorf
J. Esparza-Gordillo
M. Worm
C. Gruber
G. Mayr
M. Albrecht
K. Rohde
H. Schulz
U. Wahn
N. Huebner
Y.A. Lee