Wissenschaftliche Publikationen | Max Delbrück Center

319 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. Januar 2004 / J Clin Endocrinol Metab

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter

Y. Bayer
S. Neumann
B. Meyer
F. Rueschendorf
A. Reske
T. Brix
L. Hegedues
P. Langer
P. Nuernberg
R. Paschke

01. Januar 2004 / J Med Genet

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

A.M. Kaindl
F. Rueschendorf
S. Krause
H.H. Goebel
K. Koehler
C. Becker
D. Pongratz
J. Mueller-Hoecker
P. Nuernberg
G. Stoltenburg-Didinger
H. Lochmueller
A. Huebner

01. Januar 2004 / J Med Genet

Molecular karyotyping using an SNP array for genomewide genotyping

A. Rauch
F. Rueschendorf
J. Huang
U. Trautmann
C. Becker
C. Thiel
K.W. Jones
A. Reis
P. Nuernberg

01. Januar 2005 / Nat Genet

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

L.A. Metherell
J.P. Chapple
S. Cooray
A. David
C. Becker
F. Rueschendorf
D. Naville
M. Begeot
B. Khoo
P. Nuernberg
A. Huebner
M.E. Cheetham
A.J.L. Clark

01. Januar 2005 / Bioinformatics

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

F. Rueschendorf
P. Nuernberg

05. Januar 2005 / BMC Pulm Med

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

J. Altmüller
C. Seidel
Y.A. Lee
S. Loesgen
D. Bulle
F. Friedrichs
H. Jellouschek
J. Kelber
A. Keller
A. Schuster
M. Silbermann
W. Wahlen
P. Wolff
F. Rueschendorf
G. Schlenvoigt
P. Nuernberg
M. Wjst

01. Januar 2005 / Allergy

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3

T. Kurz
J. Altmueller
K. Strauch
F. Rueschendorf
A. Heinzmann
M.F. Moffatt
W.O.C.M. Cookson
F. Inacio
P. Nuernberg
H.H. Stassen
K.A. Deichmann

01. Januar 2004 / Endocr Res

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2

L.A. Metherell
S. Cooray
A. Huebner
F. Rueschendorf
D. Naville
M. Begeot
A.J.L. Clark