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Thonberg, Håkan
151  results:
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1

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/..
 
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2

Transposable element insertions in 1000 Swedish individuals:

Bilgrav Saether, Kristine ; Nilsson, Daniel ; Thonberg, Håkan...
PLOS ONE.  18 (2023)  7 - p. e0289346 , 2023
Link: https://doi.org/10.1371/..
 
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3

Reduced cone photoreceptor function and subtle systemic man..:

Grudzinska Pechhacker, Monika K ; Molnar, Anna ; Pekkola Pacheco, Nadja...
Ophthalmic Genetics.  45 (2023)  1 - p. 95-102 , 2023
Link: https://doi.org/10.1080/..
 
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4

Massive parallel sequencing in individuals with multiple pr..:

Wallander, Karin ; Thonberg, Håkan ; Nilsson, Daniel.
Hereditary Cancer in Clinical Practice.  19 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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5

Correction to: Massive parallel sequencing in individuals w..:

Wallander, Karin ; Thonberg, Håkan ; Nilsson, Daniel.
Hereditary Cancer in Clinical Practice.  19 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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6

Confirmation of high frequency of C9orf72 mutations in pati..:

Öijerstedt, Linn ; Chiang, Huei-Hsin ; Björkström, Jenny...
Neurobiology of Aging.  84 (2019)  - p. 241.e21-241.e25 , 2019
Link: https://doi.org/10.1016/..
 
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7

Phenotypic variability and neuropsychological findings asso..:

Mehrabian, Shima ; Thonberg, Håkan ; Raycheva, Margarita...
PLOS ONE.  13 (2018)  12 - p. e0208383 , 2018
Link: https://doi.org/10.1371/..
 
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8

Reduced penetrance of the PSEN1 H163Y autosomal dominant Al..:

Thordardottir, Steinunn ; Rodriguez-Vieitez, Elena ; Almkvist, Ove...
Alzheimer's Research & Therapy.  10 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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9

Identification and description of three families with famil..:

Thonberg, Håkan ; Chiang, Huei-Hsin ; Lilius, Lena...
Acta Neuropathologica Communications.  5 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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10

Deleterious ABCA7 mutations and transcript rescue mechanism..:

On behalf of the European Early-Onset Dementia (EU EOD) consortium ; De Roeck, Arne ; Van den Bossche, Tobi...
Acta Neuropathologica.  134 (2017)  3 - p. 475-487 , 2017
Link: https://doi.org/10.1007/..
 
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11

TBK1 Mutation Spectrum in an Extended European Patient Coho..:

van der Zee, Julie ; Gijselinck, Ilse ; Van Mossevelde, Sara...
Human Mutation.  38 (2017)  3 - p. 297-309 , 2017
Link: https://doi.org/10.1002/..
 
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12

The effects of different familial Alzheimer's disease mutat..:

Thordardottir, Steinunn ; Kinhult Ståhlbom, Anne ; Almkvist, Ove...
Alzheimer's Research & Therapy.  9 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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13

Clinicopathological contribution of rare deleterious ABCA7 ..:

Van den Bossche, Tobi ; De Roeck, Arne ; Sanchez-Valle, Raquel...
Neurology.  88 (2017)  16_supplement - p. , 2017
Link: https://doi.org/10.1212/..
 
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14

No common founder for C9orf72 expansion mutation in Sweden:

Chiang, Huei-Hsin ; Forsell, Charlotte ; Lindström, Anna-Karin...
Journal of Human Genetics.  62 (2016)  2 - p. 321-324 , 2016
Link: https://doi.org/10.1038/..
 
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15

A comprehensive study of the genetic impact of rare variant..:

Verheijen, Jan ; Van den Bossche, Tobi ; van der Zee, Julie...
Acta Neuropathologica.  132 (2016)  2 - p. 213-224 , 2016
Link: https://doi.org/10.1007/..
 
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