E-LIB Suche - Ergebnisse für: Nürnberg, P.

1

Deregulation and epigenetic modification of BCL2-family gen..:

Thomalla, D. ; Beckmann, L. ; Grimm, C....
Blood. 140 (2022) 20 - p. 2113-2126 , 2022

Link: https://doi.org/10.1182/..

2

MA01.09 Characterising Aggressive Pulmonary Carcinoids Thro..:

Sexton-Oates, A. ; Di Genova, A. ; Mangiante, L....
Journal of Thoracic Oncology. 17 (2022) 9 - p. S45-S46 , 2022

Link: https://doi.org/10.1016/..

3

SAT-449 PSEUDOURIDYLATION DEFECT DUE TO DKC1 AND NOP10 MUTA..:

Balogh, E. ; Varga, M. ; Chandler, J....
Kidney International Reports. 5 (2020) 3 - p. S188 , 2020

Link: https://doi.org/10.1016/..

4

Whole blood gene expression profiling distinguishes systemi..:

Moinzadeh, P. ; Frommolt, P. ; Franitza, M....
Journal of the European Academy of Dermatology and Venereology. 34 (2020) 5 - p. , 2020

Link: https://doi.org/10.1111/..

5

CKAP2L mutation confirms the diagnosis of Filippi syndrome:

Capecchi, G. ; Baldassarri, M. ; Ferranti, S....
Clinical Genetics. 93 (2018) 5 - p. 1109-1110 , 2018

Link: https://doi.org/10.1111/..

6

Actionable perturbations of damage responses by TCL1/ATM an..:

Schrader, A. ; Crispatzu, G. ; Oberbeck, S....
Nature Communications. 9 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

7

Paternal kinship among adult female rhesus macaques (Macaca..:

Widdig, Anja , 2017

Link: https://nbn-resolving.de..

8

Genome‐wide linkage and sequence analysis challenge CCDC66 ..:

Khan, A.O. ; Budde, B.S. ; Nürnberg, P....
Clinical Genetics. 93 (2017) 1 - p. 149-154 , 2017

Link: https://doi.org/10.1111/..

9

Functional implications of novel ADAM10 mutations in reticu..:

Ralser, D.J. ; Lestringant, G.G. ; Du-Thanh, A....
British Journal of Dermatology. 177 (2017) 6 - p. e340-e343 , 2017

Link: https://doi.org/10.1111/..

10

Morphological alterations in two siblings with autosomal re..:

Gruber, R. ; Rainer, G. ; Weiss, A....
British Journal of Dermatology. 176 (2017) 4 - p. 1068-1073 , 2017

Link: https://doi.org/10.1111/..

11

Genetic heterogeneity in Pakistani microcephaly families re..:

Ahmad, I. ; Baig, S. M. ; Abdulkareem, A. R....
Clinical Genetics. 92 (2017) 1 - p. 62-68 , 2017

Link: https://doi.org/10.1111/..

12

Association of Common Polymorphisms in the Nicotinic Acetyl..:

Mobascher, A. ; Diaz-Lacava, A. ; Wagner, M....
PLOS ONE. 11 (2016) 4 - p. e0152984 , 2016

Link: https://doi.org/10.1371/..

13

Combining genomewide association study and lung eQTL analys..:

Nieuwenhuis, M. A. ; Siedlinski, M. ; van den Berge, M....
Allergy. 71 (2016) 12 - p. 1712-1720 , 2016

Link: https://doi.org/10.1111/..

14

Mutations in SEC24D cause autosomal recessive osteogenesis ..:

Moosa, S. ; Chung, B. H.‐Y. ; Tung, J. Y.‐L....
Clinical Genetics. 89 (2015) 4 - p. 517-519 , 2015

Link: https://doi.org/10.1111/..

15

V42. De novo mutations in the FUS gene are a frequent cause..:

Hübers, A. ; Volk, A. ; Just, W....
Clinical Neurophysiology. 126 (2015) 8 - p. e87 , 2015

Link: https://doi.org/10.1016/..