E-LIB Suche - Ergebnisse für: Kaiser, Frank

1

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/..

2

Cardiac recovery from pressure overload is not altered by t..:

Kerp, Helena ; Gassen, Janina ; Grund, Susanne Camilla...
Frontiers in Endocrinology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Cornelia de Lange syndrome and cancer: An open question:

Pallotta, Maria M. ; Di Nardo, Maddalena ; Hennekam, Raoul C. M....
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 292-295 , 2022

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

13

Spin‐Labeled Riboswitch Synthesized from a Protected TPA Ph..:

Kaiser, Frank ; Endeward, Burkhard ; Collauto, Alberto...
Chemistry – A European Journal. 28 (2022) 56 - p. , 2022

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

14

TRα2—An Untuned Second Fiddle or Fine-Tuning Thyroid Hormon..:

Hönes, Georg Sebastian ; Härting, Nina ; Mittag, Jens.
International Journal of Molecular Sciences. 23 (2022) 13 - p. 6998 , 2022

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

15

Mosaic divergent repeat interruptions in XDP influence repe..:

Trinh, Joanne ; Lüth, Theresa ; Schaake, Susen...
Brain. 146 (2022) 3 - p. 1075-1082 , 2022

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