E-LIB Suche - Ergebnisse für: Wortmann, Charlotte

1

Anterior eye parameters and lens thickness measured by an i..:

Müller, Michael ; Wortmann, Charlotte ; Paul, Julia...
Eye. 37 (2023) 16 - p. 3360-3366 , 2023

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

2

Anterior eye parameters and lens thickness measured by an i..:

Müller, Michael ; Wortmann, Charlotte ; Paul, Julia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630446/. , 2023

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

3

Glycaemic patterns of male professional athletes with type ..:

van Weenen, Eva ; Banholzer, Nicolas ; Föll, Simon...
Diabetes, Obesity and Metabolism. 25 (2023) 9 - p. 2616-2625 , 2023

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

4

How to proceed after "negative" exome: A review on genetic ..:

Wortmann, Saskia B. ; Oud, Machteld M. ; Alders, Mariëlle...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 663-681 , 2022

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

5

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne...
Genetics in Medicine. 24 (2022) 4 - p. 967 , 2022

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

6

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne...
Genetics in Medicine. 23 (2021) 12 - p. 2415-2425 , 2021

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

7

Variants in NGLY1 lead to intellectual disability, myoclonu..:

Panneman, Daan M. ; Wortmann, Saskia B. ; Haaxma, Charlotte A....
Clinical Genetics. 97 (2020) 4 - p. 556-566 , 2020

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

8

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Synd..:

Alston, Charlotte L. ; Veling, Mike T. ; Heidler, Juliana...
The American Journal of Human Genetics. 106 (2020) 1 - p. 92-101 , 2020

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

9

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood..:

Feichtinger, René G. ; Oláhová, Monika ; Kishita, Yoshihito...
The American Journal of Human Genetics. 101 (2017) 4 - p. 525-538 , 2017

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

10

Glycaemic patterns of male professional athletes with type ..:

van Weenen, Eva ; Banholzer, Nicolas ; Föll, Simon...
https://boris.unibe.ch/183072/. , 2023

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

11

Glycaemic patterns of male professional athletes with type ..:

van Weenen, Eva ; id_orcid:0 000-0001-5500-2108 ; Banholzer, Nicolas...
info:eu-repo/semantics/altIdentifier/doi/10.1111/dom.15147. , 2023

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

12

Adverse fibrosis remodeling and aortopulmonary collateral f..:

Pisesky, Andrea ; Reichert, Marjolein J.E. ; de Lange, Charlotte...
Journal of Cardiovascular Magnetic Resonance. 23 (2021) 1 - p. 134 , 2021

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

13

Increased extracellular volume in the liver of pediatric Fo..:

de Lange, Charlotte ; Reichert, Marjolein J.E. ; Pagano, Joseph J....
Journal of Cardiovascular Magnetic Resonance. 21 (2019) 1 - p. 39 , 2019

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

14

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M ; Mastantuono, Elisa ; Alston, Charlotte L...
https://mediatum.ub.tum.de/1510482. , 2018

Link: https://mediatum.ub.tum...

15

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M ; Mastantuono, Elisa ; Alston, Charlotte L...
info:eu-repo/semantics/altIdentifier/pmid/30025539. , 2018

Link: http://hdl.handle.net/24..