E-LIB Suche - Ergebnisse für: Wedell, Anna

1

PARKIN is not required to sustain OXPHOS function in adult ..:

Filograna, Roberta ; Gerlach, Jule ; Choi, Hae-Na...
npj Parkinson's Disease. 10 (2024) 1 - p. , 2024

2

Human In Vitro Models of Neuroenergetics and Neurometabolic..:

Rogal, Julia ; Zamproni, Laura Nicoleti ; Nikolakopoulou, Polyxeni...
Stem Cells Translational Medicine. 13 (2024) 6 - p. 505-514 , 2024

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

3

Comment to: "SCA4 Unravelled After More than 25 Years Using..:

Paucar, Martin ; Nilsson, Daniel ; Engvall, Martin...
Movement Disorders. 39 (2024) 6 - p. 1077-1077 , 2024

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

4

Spinocerebellar ataxia type 4 is caused by a GGC expansion ..:

Paucar, Martin ; Nilsson, Daniel ; Engvall, Martin...
Journal of Internal Medicine. , 2024

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

5

Novel Synonymous and Deep Intronic Variants Causing Primary..:

Bruhn, Helene ; Naess, Karin ; Ygberg, Sofia...
Human Mutation. 2024 (2024) - p. 1-16 , 2024

Link: https://doi.org/10.1155/..

6

The disease-causing mutation p.F907I reveals a novel pathog..:

Erdinc, Direnis ; Macao, Bertil ; Valenzuela, Sebastian...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1869 (2023) 7 - p. 166786 , 2023

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

7

Precision medicine in rare diseases: What is next?:

Tesi, Bianca ; Boileau, Catherine ; Boycott, Kym M....
Journal of Internal Medicine. 294 (2023) 4 - p. 397-412 , 2023

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

8

Antigen receptor stimulation induces purifying selection ag..:

Zhang, Jingdian ; Koolmeister, Camilla ; Han, Jinming...
JCI Insight. 8 (2023) 17 - p. , 2023

Link: https://doi.org/10.1172/..

9

Individualised human phenotype ontology gene panels improve..:

Henry, Olivia J. ; Stödberg, Tommy ; Båtelson, Sofia...
Molecular Genetics & Genomic Medicine. 11 (2023) 7 - p. , 2023

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

10

Cost-Effectiveness of Newborn Screening for Phenylketonuria..:

Appelberg, Kajsa ; Sörensen, Lene ; Zetterström, Rolf H....
The Journal of Pediatrics. 256 (2023) - p. 38-43.e3 , 2023

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

11

Outcome at age 7 of epilepsy presenting in the first 2 year..:

Stödberg, Tommy ; Tomson, Torbjörn ; Anderlid, Britt‐Marie...
Epilepsia. 63 (2022) 8 - p. 2096-2107 , 2022

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

12

A Missense Variant in PDK1 Associated with Severe Neurodeve..:

Vaz, Raquel ; Wincent, Josephine ; Elfissi, Najla...
Biomedicines. 10 (2022) 12 - p. 3171 , 2022

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

13

PatientMatcher: A customizable Python‐based open‐source too..:

Rasi, Chiara ; Nilsson, Daniel ; Magnusson, Måns...
Human Mutation. , 2022

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

14

Trailblazing precision medicine in Europe: A joint view by ..:

Stenzinger, Albrecht ; Edsjö, Anders ; Ploeger, Carolin...
Seminars in Cancer Biology. 84 (2022) - p. 242-254 , 2022

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

15

ATP6V0C variants impair V-ATPase function causing a neurode..:

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Brain. 146 (2022) 4 - p. 1357-1372 , 2022

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