E-LIB Suche - Ergebnisse für: Kääriäinen, Helena

1

Nephrotic Disorders:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics,

Jalanko, Hannu ; Kääriäinen, Helena - p. 95-113 , 2023

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

2

Opt‐in for secondary findings as part of diagnostic whole‐e..:

Brunfeldt, Minna ; Kaare, Milja ; Saarinen, Inka..
Molecular Genetics & Genomic Medicine. 11 (2023) 8 - p. , 2023

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

3

List of contributors:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics,

Benson, Merrill D. ; Connaughton, Dervla M. ; Friedman, David J.... - p. ix-x , 2023

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

4

The Finnish genetic heritage in 2022 – from diagnosis to tr..:

Uusimaa, Johanna ; Kettunen, Johannes ; Varilo, Teppo...
Disease Models & Mechanisms. 15 (2022) 10 - p. , 2022

Link: https://doi.org/10.1242/..

5

Editorial: Can population health be personalized? Estonia a..:

Kääriäinen, Helena ; Metspalu, Andres ; Perola, Markus
Frontiers in Genetics. 13 (2022) - p. , 2022

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

6

Simulating the Genetics Clinic of the Future — whether unde..:

Brunfeldt, Minna ; Teare, Harriet ; Schuurbiers, Daan...
Journal of Community Genetics. 13 (2022) 2 - p. 247-256 , 2022

Link: https://doi.org/10.1007/..

7

Psychosocial Effects of Receiving Genome-Wide Polygenic Ris..:

Halmesvaara, Otto ; Vornanen, Marleena ; Kääriäinen, Helena...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

8

Rare diseases: past achievements and future prospects:

Tumiene, Birute ; Kristoffersson, Ulf ; Hedley, Victoria.
Journal of Community Genetics. 12 (2021) 2 - p. 205-206 , 2021

Link: https://doi.org/10.1007/..

9

Albert de la Chapelle (1933–2020):

Kääriäinen, Helena ; Aittomäki, Kristiina
European Journal of Human Genetics. 29 (2021) 7 - p. 1049-1050 , 2021

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

10

A Web Portal for Communicating Polygenic Risk Score Results..:

Marjonen, Heidi ; Marttila, Minttu ; Paajanen, Teemu...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

11

Perceptions of legislation relating to the sharing of genom..:

Brunfeldt, Minna ; Teare, Harriet ; Soini, Sirpa.
European Journal of Human Genetics. 26 (2018) 3 - p. 324-329 , 2018

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

12

Genetics in an isolated population like Finland: a differen..:

Kääriäinen, Helena ; Muilu, Juha ; Perola, Markus.
Journal of Community Genetics. 8 (2017) 4 - p. 319-326 , 2017

Link: https://doi.org/10.1007/..

13

The HHID syndrome of hypertrichosis, hyperkeratosis, abnorm..:

Zweier, Markus ; Peippo, Maarit M. ; Pöyhönen, Minna...
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1440-1443 , 2017

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

14

Secretary Generals on recent ESHG presidents (2003–2015):

Kääriäinen, Helena ; Houge, Gunnar
European Journal of Human Genetics. 25 (2017) S2 - p. S20-S22 , 2017

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

15

Challenges raised by cross-border testing of rare diseases ..:

Pohjola, Pia ; Hedley, Victoria ; Bushby, Kate.
European Journal of Human Genetics. 24 (2016) 11 - p. 1547-1552 , 2016

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