|
🐜
|
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
43 auth.
C. Akimoto,
A. Volk,
M. van Blitterswijk,
M. Van den Broeck,
C. Leblond,
S. Lumbroso,
W. Camu,
B. Neitzel,
O. Onodera,
W. van Rheenen,
S. Pinto,
Markus Weber,
Bradley N. Smith,
M. Proven,
K. Talbot,
...
Pamela J. Keagle,
A. Chesi,
A. Ratti,
J. van der Zee,
Helena Alstermark,
A. Birve,
D. Calini,
Angelica Nordin,
Daniela C Tradowsky,
W. Just,
H. Daoud,
Sabrina Angerbauer,
M. Dejesus‐Hernandez,
T. Konno,
Anjali Lloyd-Jani,
M. de Carvalho,
K. Mouzat,
J. Landers,
J. Veldink,
V. Silani,
A. Gitler,
C. Shaw,
G. Rouleau,
L. H. van den Berg,
C. van Broeckhoven,
R. Rademakers,
P. Andersen,
C. Kubisch
|
6 |
2014 |
6
🐜
|
|
🐜
|
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.
17 auth.
M. Grabowski,
Y. Mueller-Koch,
E. Grasbon-Frodl,
U. Koehler,
G. Keller,
H. Vogelsang,
W. Dietmaier,
R. Kopp,
U. Siebers,
Wolfgang Schmitt,
...
B. Neitzel,
M. Gruber,
C. Doerner,
B. Kerker,
P. Ruemmele,
G. Henke,
E. Holinski-Feder
|
5 |
2005 |
5
🐜
|
|
🐜
|
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
22 auth.
R. Horvath,
E. Holinski-Feder,
Vivienne C. M. Neeve,
A. Pyle,
H. Griffin,
D. Ashok,
C. Foley,
G. Hudson,
Bernd Rautenstrauss PhD,
G. Nürnberg,
...
P. Nürnberg,
Jörg Kortler,
B. Neitzel,
Ingelore Bässmann,
T. Rahman,
B. Keavney,
J. Loughlin,
S. Hambleton,
B. Schoser,
H. Lochmüller,
M. Santibanez-Koref,
P. Chinnery
|
5 |
2012 |
5
🐜
|
|
🐬
|
FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.
M. Gasteiger,
E. Grasbon-Frodl,
B. Neitzel,
F. Kooy,
Elke Holinski-Feder
|
3 |
2003 |
3
🐬
|
|
🐜
|
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
8 auth.
A. Velayos-Baeza,
E. Holinski-Feder,
B. Neitzel,
B. Bader,
E. Critchley,
A. Monaco,
...
A. Danek,
R. Walker
|
3 |
2011 |
3
🐜
|
|
🐬
|
Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
A. Laner,
A. Benet-Pagès,
B. Neitzel,
Elke Holinski-Feder
|
3 |
2020 |
3
🐬
|
|
🐜
|
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
10 auth.
J. Henkel,
A. Laner,
M. Locher,
T. Wohlfrom,
B. Neitzel,
K. Becker,
...
T. Neuhann,
A. Abicht,
V. Steinke-Lange,
E. Holinski-Feder
|
3 |
2023 |
3
🐜
|
|
🦁
|
Easy, accurate and reliable screening for SNPs by ion pair/reverse phase HPLC: simultaneous detection of factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase C677T variants.
B. Neitzel,
C. Matern,
E. Holinski-Feder
|
1 |
2003 |
1
🦁
|
