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Stranneheim, Henrik
111  results:
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1

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/..
 
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2

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/..
 
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3

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

Rasi, Chiara ; Nilsson, Daniel ; Magnusson, Måns...
Human Mutation.  , 2022
Link: https://doi.org/10.1002/..
 
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4

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/..
 
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5

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/..
 
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6

Severe congenital lactic acidosis and hypertrophic cardiomy..:

Correia, Sandrina P. ; Moedas, Marco F. ; Naess, Karin...
Human Mutation.  42 (2021)  4 - p. 378-384 , 2021
Link: https://doi.org/10.1002/..
 
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7

High diagnostic yield in skeletal ciliopathies using massiv..:

Hammarsjö, Anna ; Pettersson, Maria ; Chitayat, David...
Journal of Human Genetics.  66 (2021)  10 - p. 995-1008 , 2021
Link: https://doi.org/10.1038/..
 
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8

Epilepsy syndromes, etiologies, and the use of next‐generat..:

Stödberg, Tommy ; Tomson, Torbjörn ; Barbaro, Michela...
Epilepsia.  61 (2020)  11 - p. 2486-2499 , 2020
Link: https://doi.org/10.1111/..
 
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9

Loqusdb: added value of an observations database of local g..:

Magnusson, Måns ; Eisfeldt, Jesper ; Nilsson, Daniel...
BMC Bioinformatics.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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10

Chanjo: Clincal grade sequence coverage analysis:

Andeer, Robin ; Magnusson, Måns ; Wedell, Anna.
F1000Research.  9 (2020)  - p. 615 , 2020
Link: https://doi.org/10.12688..
 
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11

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential fo..:

Calvo-Garrido, Javier ; Maffezzini, Camilla ; Schober, Florian A....
Stem Cell Reports.  12 (2019)  4 - p. 696-711 , 2019
Link: https://doi.org/10.1016/..
 
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12

From cytogenetics to cytogenomics: whole-genome sequencing ..:

Lindstrand, Anna ; Eisfeldt, Jesper ; Pettersson, Maria...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

Chorea, psychosis, acanthocytosis, and prolonged survival a..:

Paucar, Martin ; Pajak, Aleksandra ; Freyer, Christoph...
Neurology.  91 (2018)  15 - p. 710-712 , 2018
Link: https://doi.org/10.1212/..
 
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14

Respiratory chain complex III deficiency due to mutated BCS..:

Tegelberg, Saara ; Tomašić, Nikica ; Kallijärvi, Jukka...
Orphanet Journal of Rare Diseases.  12 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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15

Biotin and Thiamine Responsive Basal Ganglia Disease – A vi..:

Ygberg, Sofia ; Naess, Karin ; Eriksson, Mats...
European Journal of Paediatric Neurology.  20 (2016)  3 - p. 457-461 , 2016
Link: https://doi.org/10.1016/..
 
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