E-LIB Suche - Ergebnisse für: Kaiser, Frank

1

Lack of canonical thyroid hormone receptor α signaling chan..:

Wenzek, Christina ; Siemes, Devon ; Hönes, G. Sebastian...
iScience. 27 (2024) 8 - p. 110547 , 2024

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

2

Skeletal muscle vulnerability in a child with Pitt-Hopkins ..:

Chiu, Celine ; Küchler, Alma ; Depienne, Christel...
Skeletal Muscle. 14 (2024) 1 - p. , 2024

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

3

Assessment of Quality of Life Using the Kidslife Scale in I..:

Trujillano, Laura ; Ayerza-Casas, Ariadna ; Puisac, Beatriz...
Cureus. , 2024

Link: https://doi.org/10.7759/..

4

Identification and characterisation of pathogenic and non-p..:

Mohren, Lars ; Erdlenbruch, Friedrich ; Leitão, Elsa...
Nature Communications. 15 (2024) 1 - p. , 2024

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

5

Recommendations for optimal interdisciplinary management an..:

Graessner, Holm ; Reinhard, Carola ; Bäumer, Tobias...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

6

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100287 , 2024

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

7

Lipid and protein imbalances in muscle of a FAR1-patient wi..:

Della Marina, Adela ; Hentschel, Andreas ; Stenzel, Martin...
Journal of Neuropathology & Experimental Neurology. , 2024

Link: https://doi.org/10.1093/..

8

Bi-allelic variants of FILIP1 cause congenital myopathy, dy..:

Roos, Andreas ; van der Ven, Peter F M ; Alrohaif, Hadil...
Brain. 146 (2023) 10 - p. 4200-4216 , 2023

Link: https://doi.org/10.1093/..

9

Novel Variants of SOX4 in Patients with Intellectual Disabi..:

Grosse, Martin ; Kuechler, Alma ; Dabir, Tabib...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3519 , 2023

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

10

Episignature analysis of moderate effects and mosaics:

Oexle, Konrad ; Zech, Michael ; Stühn, Lara G....
European Journal of Human Genetics. 31 (2023) 9 - p. 1032-1039 , 2023

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

11

Clinical improvement of Long-COVID is associated with reduc..:

Achleitner, Martin ; Steenblock, Charlotte ; Dänhardt, Juliane...
Molecular Psychiatry. 28 (2023) 7 - p. 2872-2877 , 2023

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

12

Genome-wide case-only analysis of gene-gene interactions wi..:

Aleknonytė-Resch, Milda ; Trinh, Joanne ; Leonard, Hampton...
npj Parkinson's Disease. 9 (2023) 1 - p. , 2023

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

13

Subclinical myocardial dysfunction is revealed by speckle t..:

Trujillano, Laura ; Ayerza-Casas, Ariadna ; Puisac, Beatriz...
The International Journal of Cardiovascular Imaging. 38 (2022) 11 - p. 2291-2302 , 2022

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

14

Systematic analysis and prediction of genes associated with..:

Leitão, Elsa ; Schröder, Christopher ; Parenti, Ilaria...
Nature Communications. 13 (2022) 1 - p. , 2022

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

15

Disruption of the topologically associated domain at Xp21.2..:

Meinel, Jakob A ; Yumiceba, Verónica ; Künstner, Axel...
Journal of Medical Genetics. 60 (2022) 5 - p. 469-476 , 2022

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