E-LIB Suche - Ergebnisse für: Staufner, C.

1

Genotypic and phenotypic spectrum of cytosolic phosphoenolp..:

Goetz, M. ; Schröter, J. ; Dattner, T....
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 18-25 , 2022

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

2

Cardiac phenotype in propionic acidemia – Results of an obs..:

Kovacevic, A. ; Garbade, S.F. ; Hoffmann, G.F....
Molecular Genetics and Metabolism. 130 (2020) 1 - p. 41-48 , 2020

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

3

MRI and 1H-MRS in adenosine kinase deficiency:

Staufner, C. ; Blom, H. J. ; Dionisi-Vici, C....
Neuroradiology. 58 (2016) 7 - p. 697-703 , 2016

Link: https://doi.org/10.1007/..

4

Algorithm for early diagnosis in nontuberculous mycobacteri..:

Staufner, C ; Sommerburg, O ; Holland‐Cunz, S
Acta Paediatrica. 101 (2012) 8 - p. , 2012

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

5

O9-2 Expression of glutamate receptors in pediatric tumours..:

Luksch, H. ; Staufner, C. ; Marzahn, J....
European Journal of Paediatric Neurology. 13 (2009) - p. S21-S22 , 2009

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

6

Clinical implementation of RNA sequencing for Mendelian dis..:

Yepez V. A ; Gusic M ; Kopajtich R...
info:eu-repo/semantics/altIdentifier/pmid/35379322. , 2022

Link: https://hdl.handle.net/2..

7

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, V.A ; Gusic, M ; Kopajtich, R...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13073-022-01019-9. , 2022

Link: https://push-zb.helmholt..

8

NBAS variants are associated with quantitative and qualitat..:

Lenz, D ; Pahl, J ; Hauck, F...
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf. , 2021

Link: https://eprints.whiteros..

9

NBAS variants are associated with quantitative and qualitat..:

Lenz, D ; Pahl, J ; Hauck, F...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10875-021-01110-7. , 2021

Link: https://push-zb.helmholt..

10

Rescue of respiratory failure in pulmonary alveolar protein..:

Lenz, D ; Stahl, M ; Seidl, E...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ppul.25031. , 2020

Link: https://push-zb.helmholt..

11

Genotypic diversity and phenotypic spectrum of infantile li..:

Lenz, D ; Smith, D.E.C ; Crushell, E...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-0904-4. , 2020

Link: https://push-zb.helmholt..

12

Monogenic variants in dystonia: an exome-wide sequencing st..:

Zech M ; Jech R ; Boesch S...
14744465. , 2020

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

13

Monogenic variants in dystonia: An exome-wide sequencing st..:

Zech, M ; Jech, R ; Boesch, S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/S1474-4422(20)30312-4. , 2020

Link: https://push-zb.helmholt..

14

Defining clinical subgroups and genotype-phenotype correlat..:

Staufner, C ; Peters, B ; Wagner, M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-019-0698-4. , 2020

Link: https://push-zb.helmholt..

15

RINT1 Bi-allelic variations cause infantile-onset recurrent..:

Cousin, M.A ; Conboy, E ; Wang, J.S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.05.011. , 2019

Link: https://push-zb.helmholt..