E-LIB Suche - Ergebnisse für: Stödberg, Tommy

1

Unraveling GRIA1 neurodevelopmental disorders: Lessons lear..:

Tvergaard, Nicolai Kohring ; Tkemaladze, Tinatin ; Stödberg, Tommy...
Clinical Genetics. , 2024

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

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/..

3

Individualised human phenotype ontology gene panels improve..:

Henry, Olivia J ; Stödberg, Tommy ; Båtelson, Sofia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337286/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Individualised human phenotype ontology gene panels improve..:

Olivia J. Henry ; Tommy Stödberg ; Sofia Båtelson...
https://doi.org/10.1002/mgg3.2167. , 2023

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

5

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/..

6

Case report: Fatal outcome of pyridoxine-dependent epilepsy..:

Aquilano, Giulia ; Linnér, Agnes ; Ygberg, Sofia..
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

7

A study of incidence, causative factors, symptoms, and prog..:

Stödberg, Tommy
I. Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study. Stödberg, T. Tomson, T. Barbaro, M. Stranneheim, H. Anderlid, B. M. Carlsson, S. Åmark, P. Wedell, A. Epilepsia. 2020 Nov;61(11):2486-2499. ::doi::10.1111/epi.16701 ::pmid::32964447 ::isi::000571794700001. , 2022

Link: http://hdl.handle.net/10..

8

Case report: Fatal outcome of pyridoxine-dependent epilepsy..:

Giulia Aquilano ; Agnes Linnér ; Sofia Ygberg..
https://www.frontiersin.org/articles/10.3389/fped.2022.940103/full. , 2022

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

9

Case report: Fatal outcome of pyridoxine-dependent epilepsy..:

Aquilano, Giulia ; Linnér, Agnes ; Ygberg, Sofia..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366515/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Additional file 1 of Integration of whole genome sequencing..:

Henrik Stranneheim (133991) ; Kristina Lagerstedt-Robinson (3556532) ; Måns Magnusson (299930)...
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Integration_of_whole_genome_sequencing_into_a_healthcare_setting_high_diagnostic_rates_across_multiple_clinical_entities_in_3219_rare_disease_patients/14228410. , 2021

Link: https://doi.org/10.6084/..

11

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

Henrik Stranneheim ; Kristina Lagerstedt-Robinson ; Måns Magnusson...
https://doi.org/10.1186/s13073-021-00855-5. , 2021

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

12

Additional file 2 of Integration of whole genome sequencing..:

Henrik Stranneheim (133991) ; Kristina Lagerstedt-Robinson (3556532) ; Måns Magnusson (299930)...
https://figshare.com/articles/dataset/Additional_file_2_of_Integration_of_whole_genome_sequencing_into_a_healthcare_setting_high_diagnostic_rates_across_multiple_clinical_entities_in_3219_rare_disease_patients/14228416. , 2021

Link: https://doi.org/10.6084/..

13

Additional file 3 of Integration of whole genome sequencing..:

Henrik Stranneheim (133991) ; Kristina Lagerstedt-Robinson (3556532) ; Måns Magnusson (299930)...
https://figshare.com/articles/dataset/Additional_file_3_of_Integration_of_whole_genome_sequencing_into_a_healthcare_setting_high_diagnostic_rates_across_multiple_clinical_entities_in_3219_rare_disease_patients/14228419. , 2021

Link: https://doi.org/10.6084/..

14

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/..

15

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

Stödberg, Tommy ; Tomson, Torbjörn ; Barbaro, Michela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756847/. , 2020

Link: http://www.ncbi.nlm.nih...