E-LIB Suche - Ergebnisse für: Falb, Ruth J

1

ZSCAN10 deficiency causes a neurodevelopmental disorder wit..:

Laugwitz, Lucia ; Cheng, Fubo ; Collins, Stephan C...
Brain. 147 (2024) 7 - p. 2471-2482 , 2024

2

Diagnostic genome sequencing improves diagnostic yield: a p..:

Weisschuh, Nicole ; Mazzola, Pascale ; Zuleger, Theresia...
Journal of Medical Genetics. 61 (2023) 2 - p. 186-195 , 2023

Link: https://doi.org/10.1136/..

3

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/..

4

Bi-allelic loss-of-function variants inKIF21Acause severe f..:

Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram...
Journal of Medical Genetics. 60 (2021) 1 - p. 48-56 , 2021

Link: https://doi.org/10.1136/..

5

The impact of an audience response system on a summative as..:

Schmidt, Thorsten ; Gazou, Anastasia ; Rieß, Angelika...
BMC Medical Education. 20 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

6

Bi-allelic loss-of-function variants in KIF21A cause severe..:

Falb, Ruth J ; Mueller, Amelie Johanna ; Hirt, Nina.
https://freidok.uni-freiburg.de/data/223116. , 2023

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

7

Bi-allelic loss-of-function variants in KIF21A cause severe..:

Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811090/. , 2023

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

8

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257005/. , 2023

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

9

Bi-allelic loss-of-function variants in KIF21A cause severe..:

Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram...
https://jmg.bmj.com/highwire/filestream/183711/field_highwire_adjunct_files/0/jmedgenet-2021-108064supp001_data_supplement.pdf. , 2022

Link: https://doi.org/10.18725..

10

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
https://boris.unibe.ch/162630/. , 2022

Link: https://boris.unibe.ch/1..

11

Human COQ4 deficiency: delineating the clinical, metabolic ..:

Laugwitz, Lucia ; Seibt, Annette ; Herebian, Diran...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9807242/. , 2022

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

12

The impact of an audience response system on a summative as..:

Schmidt, Thorsten ; Gazou, Anastasia ; Rieß, Angelika...
https://boris.unibe.ch/145416/. , 2020

Link: https://boris.unibe.ch/1..

13

De novo missense variants in FBXO11 alter its protein expre..:

Anne Gregor ; Tanja Meerbrei ; Thorsten Gerstner...
info:eu-repo/grantAgreement/EC/H2020/837547/. , 2021

Link: https://zenodo.org/recor..

14

The impact of an audience response system on a summative as..:

Thorsten Schmidt ; Anastasia Gazou ; Angelika Rieß...
http://link.springer.com/article/10.1186/s12909-020-02130-4. , 2020

Link: https://doi.org/10.1186/..

15

Stochastic differential equations in Hilbert space:

Curtain, Ruth F ; Falb, Peter L
Journal of Differential Equations. 10 (1971) 3 - p. 412-430 , 1971

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