E-LIB Suche - Ergebnisse für: Kutsche, Kerstin

1

Loss of TBC1D2B causes a progressive neurological disorder ..:

Harms, Frederike L. ; Rexach, Jessica Erin ; Efthymiou, Stephanie...
European Journal of Human Genetics. 32 (2024) 5 - p. 558-566 , 2024

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

2

Novel biallelic PISD missense variants cause spondyloepimet..:

Aagaard Nolting, Line ; Holling, Tess ; Nishimura, Gen...
Clinical Genetics. , 2024

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

3

Craniofacial dysmorphism, skeletal anomalies, and impaired ..:

Abdelrazek, Ibrahim M. ; Holling, Tess ; Harms, Frederike L....
European Journal of Medical Genetics. 66 (2023) 3 - p. 104715 , 2023

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

4

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 11 - p. 100964 , 2023

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

5

INPP4A-related genetic and phenotypic spectrum and function..:

Hecher, Laura ; Harms, Frederike L. ; Lisfeld, Jasmin...
neurogenetics. 24 (2023) 2 - p. 79-93 , 2023

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

6

Two newly identified CACNA1I variants linked to neurodevelo..:

El Ghaleb, Yousra ; Fernandez-Quintero, Monica L. ; Campiglio, Marta...
Biophysical Journal. 122 (2023) 3 - p. 107a , 2023

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

7

TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparat..:

Holling, Tess ; Brylka, Laura ; Scholz, Tasja...
Journal of Bone and Mineral Research. 38 (2023) 9 - p. 1334-1349 , 2023

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

8

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 10 - p. 100927 , 2023

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

9

Autosomal dominantly inherited myopathy likely caused by th..:

Holling, Tess ; Lisfeld, Jasmin ; Johannsen, Jessika...
Human Mutation. 43 (2022) 9 - p. 1224-1233 , 2022

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

10

Cardiofacioneurodevelopmental syndrome: Report of a novel p..:

Abdalla, Ebtesam ; Alawi, Malik ; Meinecke, Peter..
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2448-2453 , 2022

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

11

Regulation of Liprin-α phase separation by CASK is disrupte..:

Tibbe, Debora ; Ferle, Pia ; Krisp, Christoph...
Life Science Alliance. 5 (2022) 10 - p. e202201512 , 2022

Link: https://doi.org/10.26508..

12

Novel biallelic variants expand the SLC5A6-related phenotyp..:

Holling, Tess ; Nampoothiri, Sheela ; Tarhan, Bedirhan...
European Journal of Human Genetics. 30 (2022) 4 - p. 439-449 , 2022

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

13

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain..:

Bauer, Christiane K. ; Holling, Tess ; Horn, Denise...
International Journal of Molecular Sciences. 23 (2022) 17 - p. 9690 , 2022

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

14

Biallelic CACNA2D1 loss-of-function variants cause early-on..:

Dahimene, Shehrazade ; von Elsner, Leonie ; Holling, Tess...
Brain. 145 (2022) 8 - p. 2721-2729 , 2022

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

15

A homozygous hypomorphicBNIP1variant causes an increase in ..:

Holling, Tess ; Bhavani, Gandham S. ; Elsner, Leonie...
Human Mutation. 43 (2022) 5 - p. 625-642 , 2022

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