E-LIB Suche - Ergebnisse für: Engvall, Martin

1

Novel findings in a Swedish primary familial brain calcific..:

Sennfält, Stefan ; Gustavsson, Peter ; Malmgren, Helena...
Journal of the Neurological Sciences. 460 (2024) - p. 123020 , 2024

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

2

The ganglion cell complex thickness and visual function in ..:

Hedström, Johan ; Nilsson, Maria ; Engvall, Martin.
Acta Ophthalmologica. 102 (2024) S279 - p. , 2024

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

3

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/..

4

Genome sequencing with comprehensive variant calling identi..:

Ek, Marlene ; Nilsson, Daniel ; Engvall, Martin...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

5

Elevated plasma phospholipid n-3 docosapentaenoic acid conc..:

Strandvik, Birgitta ; Qureshi, Abdul Rashid ; Painer, Johanna...
PLOS ONE. 18 (2023) 6 - p. e0285782 , 2023

Link: https://doi.org/10.1371/..

6

DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain. 145 (2022) 5 - p. 1624-1631 , 2022

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

7

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 G..:

Engvall, Martin ; Kawasaki, Aki ; Carelli, Valerio...
Frontiers in Neurology. 12 (2021) - p. , 2021

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

8

Integration of whole genome sequencing into a healthcare se..:

Stranneheim, Henrik ; Lagerstedt-Robinson, Kristina ; Magnusson, Måns...
Genome Medicine. 13 (2021) 1 - p. , 2021

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

9

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 L..:

Naess, Karin ; Bruhn, Helene ; Stranneheim, Henrik...
The Journal of Pediatrics. 228 (2021) - p. 240-251.e2 , 2021

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

10

Phenotypic spectrum and clinical course of single large-sca..:

Björkman, Kristoffer ; Vissing, John ; Østergaard, Elsebet...
Journal of Medical Genetics. 60 (2021) 1 - p. 65-73 , 2021

Link: https://doi.org/10.1136/..

11

The impact of gender, puberty, and pregnancy in patients wi..:

Hikmat, Omar ; Naess, Karin ; Engvall, Martin...
Annals of Clinical and Translational Neurology. 7 (2020) 10 - p. 2019-2025 , 2020

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

12

Expanded Screening of One Million Swedish Babies with R4S a..:

Sörensen, Lene ; von Döbeln, Ulrika ; Åhlman, Henrik...
International Journal of Neonatal Screening. 6 (2020) 2 - p. 42 , 2020

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

13

Simplifying the clinical classification of polymerase gamma..:

Hikmat, Omar ; Naess, Karin ; Engvall, Martin...
Journal of Inherited Metabolic Disease. 43 (2020) 4 - p. 726-736 , 2020

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

14

Myoglobinopathy is an adult-onset autosomal dominant myopat..:

Olivé, Montse ; Engvall, Martin ; Ravenscroft, Gianina...
Nature Communications. 10 (2019) 1 - p. , 2019

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

15

Elevated cerebrospinal fluid protein in POLG‐related epilep..:

Hikmat, Omar ; Naess, Karin ; Engvall, Martin...
Epilepsia. 59 (2018) 8 - p. 1595-1602 , 2018

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