E-LIB Suche - Ergebnisse für: Kraft, Florian

1

Biallelic loss-of-function variants of ZFTRAF1 cause neurod..:

Asif, Maria ; Khayyat, Arwa Ishaq A. ; Alawbathani, Salem...
Genetics in Medicine. 26 (2024) 7 - p. 101143 , 2024

2

A Homozygous NDUFS6 Variant Associated with Neuropathy and ..:

Gangfuß, Andrea ; Rating, Philipp ; Ferreira, Tomas...
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 485-491 , 2024

Link: https://doi.org/10.3233/..

3

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy b..:

Kleinle, Stephanie ; Scholz, Veronika ; Benet-Pagés, Anna...
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 835-846 , 2023

Link: https://doi.org/10.3233/..

4

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

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

5

Molecular characterisation of 36 multilocus imprinting dist..:

Bilo, Larissa ; Ochoa, Eguzkine ; Lee, Sunwoo...
Clinical Epigenetics. 15 (2023) 1 - p. , 2023

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

6

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
Brain. 146 (2023) 12 - p. 4880-4890 , 2023

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

7

EphrinA5 regulates cell motility by modulating Snhg15/DNA t..:

Yildiz, Can Bora ; Kundu, Tathagata ; Gehrmann, Julia...
Epigenetics & Chromatin. 16 (2023) 1 - p. , 2023

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

8

Pancreatic cancer cells are addicted to expression of the P..:

Stark, Maren ; Tiwari, Dinesh K. ; Kuhl, Anna...
Pancreatology. 23 (2023) - p. e128 , 2023

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

9

Fatigue Life of Refurbished Fiber Reinforced Thermoplastics:

, In: Future Automotive Production Conference 2022; Zukunftstechnologien für den multifunktionalen Leichtbau,

Weintraut, Dennis ; Kraft, Florian ; Freeden, Justus. - p. 19-29 , 2023

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

10

Functional connectivity signatures of NMDAR dysfunction in ..:

Gaebler, Arnim J. ; Fakour, Nilüfer ; Stöhr, Felix...
Translational Psychiatry. 13 (2023) 1 - p. , 2023

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

11

New Insights into the Neuromyogenic Spectrum of a Gain of F..:

Kölbel, Heike ; Kraft, Florian ; Hentschel, Andreas...
Genes. 13 (2022) 5 - p. 893 , 2022

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

12

Biallelic loss-of-function variants in WDR11 are associated..:

Haag, Natja ; Tan, Ene-Choo ; Begemann, Matthias...
European Journal of Human Genetics. 29 (2021) 11 - p. 1663-1668 , 2021

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

13

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and H..:

Hübner, Christian Thomas ; Meyer, Robert ; Kenawy, Asmaa...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 7 - p. 2401-2407 , 2020

Link: https://doi.org/10.1210/..

14

Inherited cases of CNOT3‐associated intellectual developmen..:

Meyer, Robert ; Begemann, Matthias ; Demuth, Stephanie...
Clinical Genetics. 98 (2020) 4 - p. 408-412 , 2020

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

15

Long-read sequencing to understand genome biology and cell ..:

Kraft, Florian ; Kurth, Ingo
The International Journal of Biochemistry & Cell Biology. 126 (2020) - p. 105799 , 2020

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