E-LIB Suche - Ergebnisse für: Altmüller, Janine

1

Bi-allelic PRRT2 variants may predispose to Self-limited Fa..:

Koko, Mahmoud ; Elseed, Maha A. ; Mohammed, Inaam N....
European Journal of Human Genetics. , 2024

2

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024

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

3

The role of microRNAs in defining LSECs cellular identity a..:

Jamil, Muhammad Ahmer ; Al-Rifai, Rawya ; Nuesgen, Nicole...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

4

Long-read sequencing identifies a common transposition hapl..:

Tschernoster, Nikolai ; Erger, Florian ; Kohl, Stefan...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

5

Oncogenic role and target properties of the lysine-specific..:

Jiang, Qu ; Stachelscheid, Johanna ; Bloehdorn, Johannes...
Blood. , 2023

Link: https://doi.org/10.1182/..

6

S236: HIGH-BREADTH SEQUENCING OF CIRCULATING TUMOR DNA IDEN..:

Heger, Jan-Michel ; Mattlener, Julia ; Mammadova, Laman...
HemaSphere. 7 (2023) S3 - p. e8618132 , 2023

Link: https://doi.org/10.1097/..

7

Potential Contribution of Ancient Introgression to the Evol..:

Flury, Jana M ; Meusemann, Karen ; Martin, Sebastian...
Genome Biology and Evolution. 15 (2023) 8 - p. , 2023

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

8

Genomic ALK alterations in primary and relapsed neuroblasto..:

Rosswog, Carolina ; Fassunke, Jana ; Ernst, Angela...
British Journal of Cancer. 128 (2023) 8 - p. 1559-1571 , 2023

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

9

Spatial and single-cell profiling of the metabolome, transc..:

Nikopoulou, Chrysa ; Kleinenkuhnen, Niklas ; Parekh, Swati...
Nature Aging. 3 (2023) 11 - p. 1430-1445 , 2023

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

10

The genetic spectrum of congenital ocular motor apraxia typ..:

Schröder, Simone ; Yigit, Gökhan ; Li, Yun...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

11

The phenotypic and genotypic spectrum of epilepsy and intel..:

von Brauchitsch, Sophie ; Haslinger, Denise ; Lindlar, Silvia...
Epilepsia Open. 8 (2023) 2 - p. 497-508 , 2023

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

12

Expanding the spectrum of EEF1D neurodevelopmental disorder..:

Averdunk, Luisa ; Al‐Thihli, Khalid ; Surowy, Harald...
Clinical Genetics. 103 (2023) 4 - p. 484-491 , 2023

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

13

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
Human Genetics. 142 (2023) 4 - p. 543-552 , 2023

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

14

Modeling of ACTN4-Based Podocytopathy Using Drosophila Neph..:

Odenthal, Johanna ; Dittrich, Sebastian ; Ludwig, Vivian...
Kidney International Reports. 8 (2023) 2 - p. 317-329 , 2023

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

15

The Fate of Oxidative Strand Breaks in Mitochondrial DNA:

Trombly, Genevieve ; Said, Afaf Milad ; Kudin, Alexei P....
Antioxidants. 12 (2023) 5 - p. 1087 , 2023

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