E-LIB Suche - Ergebnisse für: Menden, Benita

1

Genomes in clinical care:

Riess, Olaf ; Sturm, Marc ; Menden, Benita...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine. 24 (2022) 10 - p. 2079-2090 , 2022

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

3

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of..:

Welzel, Tatjana ; Oefelein, Lea ; Holzer, Ursula...
Journal of Clinical Medicine. 11 (2022) 15 - p. 4369 , 2022

Link: https://doi.org/10.3390/..

4

Expanded Genetic Spectrum and Variable Disease Onset in AOP..:

Menden, Benita ; Gutschalk, Alexander ; Wunderlich, Gilbert.
Movement Disorders. 37 (2022) 5 - p. 1113-1115 , 2022

Link: https://doi.org/10.1002/..

5

A single center experience of prenatal parent‐fetus trio ex..:

Dufke, Andreas ; Hoopmann, Markus ; Waldmüller, Stephan...
Prenatal Diagnosis. 42 (2022) 7 - p. 901-910 , 2022

Link: https://doi.org/10.1002/..

6

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf. , 2022

Link: https://discovery.ucl.ac..

7

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of..:

Welzel, Tatjana ; Oefelein, Lea ; Holzer, Ursula...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368933/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Variant in the PLCG2 gene may cause a phenotypic overlap of..:

Welzel, Tatjana ; Oefelein, Lea ; Holzer, Ursula...
https://freidok.uni-freiburg.de/data/228850. , 2022

Link: https://freidok.uni-frei..

9

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of..:

Tatjana Welzel ; Lea Oefelein ; Ursula Holzer...
https://www.mdpi.com/2077-0383/11/15/4369. , 2022

Link: https://doi.org/10.3390/..

10

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of..:

Tatjana Welzel ; Lea Oefelein ; Ursula Holzer...
Immunology. , 2022

Link: https://doi.org/10.3390/..

11

Prävalenz rheumatologisch-immunologischer Erkrankungen im ..:

Menden, Benita , 2018

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