E-LIB Suche - Ergebnisse für: Weber, Astrid

1

Reassessing the association: Evaluation of a polyalanine de..:

Walton, Isaac S. ; McCann, Emma ; Weber, Astrid...
Journal of Anatomy. , 2024

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

2

Review of Recurrently Mutated Genes in Craniosynostosis Sup..:

Tooze, Rebecca S. ; Calpena, Eduardo ; Weber, Astrid...
Genes. 14 (2023) 3 - p. 615 , 2023

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

3

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

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

4

Alexa, Tell Me a Joke!: "Voice Interfaces are Truly Inclusi..:

, In: CHI Conference on Human Factors in Computing Systems Extended Abstracts,

Sin, Jaisie ; Munteanu, Cosmin ; Waycott, Jenny... - p. 1-3 , 2022

Link: https://dl.acm.org/doi/1..

5

Evaluating the performance of a clinical genome sequencing ..:

Hyder, Zerin ; Calpena, Eduardo ; Pei, Yang...
Genetics in Medicine. 23 (2021) 12 - p. 2360-2368 , 2021

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

6

SMAD6 variants in craniosynostosis: genotype and phenotype ..:

Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi...
Genetics in Medicine. 22 (2020) 9 - p. 1498-1506 , 2020

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

7

A genome-wide association study implicates the BMP7 locus a..:

The National Birth Defects Prevention Study ; Justice, Cristina M. ; Cuellar, Araceli...
Human Genetics. 139 (2020) 8 - p. 1077-1090 , 2020

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

8

Correction: SMAD6 variants in craniosynostosis: genotype an..:

Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi...
Genetics in Medicine. 22 (2020) 9 - p. 1567 , 2020

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

9

Delineation of dominant and recessive forms of LZTR1‐associ..:

Pagnamenta, Alistair T. ; Kaisaki, Pamela J. ; Bennett, Fenella...
Clinical Genetics. 95 (2019) 6 - p. 693-703 , 2019

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

10

Refining the phenotype associated with GNB1 mutations: Clin..:

Hemati, Parisa ; Revah‐Politi, Anya ; Bassan, Haim...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2259-2275 , 2018

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

11

SET de novo frameshift variants associated with development..:

DDD Study ; Richardson, Ruth ; Splitt, Miranda...
European Journal of Human Genetics. 26 (2018) 9 - p. 1306-1311 , 2018

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

12

Accessible Voice Interfaces:

, In: Companion of the 2018 ACM Conference on Computer Supported Cooperative Work and Social Computing,

Brewer, Robin N. ; Findlater, Leah ; Kaye, Joseph 'Jofish'... - p. 441-446 , 2018

Link: https://dl.acm.org/doi/1..

13

Paula

mein Leben soll ein Fest sein

Weber, Astrid ; Schwochow, Christian ; Kolditz, Stefan... , [2017]

Copies: Zentrale/Mediathek: ph 5571; TB Kunst: DK MOD

14

A biallelic mutation in IL6ST encoding the GP130 co-recepto..:

Schwerd, Tobias ; Twigg, Stephen R.F. ; Aschenbrenner, Dominik...
Journal of Experimental Medicine. 214 (2017) 9 - p. 2547-2562 , 2017

Link: https://doi.org/10.1084/..

15

Haploinsufficiency for ANKRD11-flanking genes makes the dif..:

Novara, Francesca ; Rinaldi, Berardo ; Sisodiya, Sanjay M...
European Journal of Human Genetics. 25 (2017) 6 - p. 694-701 , 2017

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