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Pöyhönen, Minna
140  results:
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1

Estimation of carrier frequencies utilizing the gnomAD data..:

Kandolin, Miska ; Pöyhönen, Minna ; Jakkula, Eveliina
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Tumor-independent Detection of Inherited Mismatch Repair De..:

Kansikas, Minttu ; Vähätalo, Laura ; Kantelinen, Jukka...
Cancer Research Communications.  3 (2023)  3 - p. 361-370 , 2023
Link: https://doi.org/10.1158/..
 
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3

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic..:

Foddis, Marco ; Blumenau, Sonja ; Holtgrewe, Manuel...
Neurobiology of Aging.  123 (2023)  - p. 208-215 , 2023
Link: https://doi.org/10.1016/..
 
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4

Craniofacial and dental features of Axenfeld‐Rieger syndrom..:

Arte, Sirpa ; Pöyhönen, Minna ; Myllymäki, Emmi...
Orthodontics & Craniofacial Research.  26 (2023)  3 - p. 320-330 , 2023
Link: https://doi.org/10.1111/..
 
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5

Platelet function and filamin A expression in two families ..:

Tanner, Laura M. ; Kunishima, Shinji ; Lehtinen, Elina...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1716-1722 , 2022
Link: https://doi.org/10.1002/..
 
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6

Genetic analysis reveals novel variants for vascular cognit..:

Mönkäre, Saana ; Kuuluvainen, Liina ; Schleutker, Johanna...
Acta Neurologica Scandinavica.  146 (2022)  1 - p. 42-50 , 2022
Link: https://doi.org/10.1111/..
 
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7

Clinical features and spectrum ofNOTCH3variants in Finnish ..:

Mönkäre, Saana ; Kuuluvainen, Liina ; Schleutker, Johanna..
Acta Neurologica Scandinavica.  146 (2022)  5 - p. 643-651 , 2022
Link: https://doi.org/10.1111/..
 
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8

PHACTR1 genetic variability is not critical in small vessel..:

Messerschmidt, Clemens ; Foddis, Marco ; Blumenau, Sonja...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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9

APOE ε4 associates with increased risk of severe COVID-19, ..:

Kurki, Samu N. ; Kantonen, Jonas ; Kaivola, Karri...
Acta Neuropathologica Communications.  9 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Haploinsufficiency of the NF1 gene is associated with prote..:

Kallionpää, Roope A ; Peltonen, Sirkku ; Leppävirta, Jussi...
Journal of Medical Genetics.  58 (2020)  6 - p. 378-384 , 2020
Link: https://doi.org/10.1136/..
 
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11

Chorea-acanthocytosis associated with two novel heterozygou..:

Verkkoniemi-Ahola, Auli ; Kuuluvainen, Liina ; Kivirikko, Sirpa..
Journal of the Neurological Sciences.  408 (2020)  - p. 116555 , 2020
Link: https://doi.org/10.1016/..
 
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12

Constitutional mosaicism for a BRCA2 mutation as a cause of..:

Alhopuro, Pia ; Vainionpää, Reetta ; Anttonen, Anna-Kaisa...
Familial Cancer.  19 (2020)  4 - p. 307-310 , 2020
Link: https://doi.org/10.1007/..
 
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13

Whole-exome sequencing of Finnish patients with vascular co..:

Mönkäre, Saana ; Kuuluvainen, Liina ; Kun-Rodrigues, Celia...
European Journal of Human Genetics.  29 (2020)  4 - p. 663-671 , 2020
Link: https://doi.org/10.1038/..
 
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14

Pediatric malignancies in neurofibromatosis type 1: A popul..:

Peltonen, Sirkku ; Kallionpää, Roope A. ; Rantanen, Matti...
International Journal of Cancer.  145 (2019)  11 - p. 2926-2932 , 2019
Link: https://doi.org/10.1002/..
 
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15

Novel TMEM173 Mutation and the Role of Disease Modifying Al..:

Keskitalo, Salla ; Haapaniemi, Emma ; Einarsdottir, Elisabet...
Frontiers in Immunology.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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