E-LIB Suche - Ergebnisse für: Frisk, Sofia

1

Assessment of gene–disease associations and recommendations..:

Revencu, Nicole ; Eijkelenboom, Astrid ; Bracquemart, Claire...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Detection of germline mosaicism in fathers of children with..:

Frisk, Sofia ; Wachtmeister, Alexandra ; Laurell, Tobias...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

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

3

A complex DICER1 syndrome phenotype associated with a germl..:

Pontén, Emeli ; Frisk, Sofia ; Taylan, Fulya...
Journal of Medical Genetics. 59 (2020) 2 - p. 141-146 , 2020

Link: https://doi.org/10.1136/..

4

Early activating somatic PIK3CA mutations promote ectopic m..:

Frisk, Sofia ; Taylan, Fulya ; Blaszczyk, Izabela...
Clinical Genetics. 96 (2019) 2 - p. 118-125 , 2019

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

5

Goltz syndrome in males: A clinical report of a male patien..:

Frisk, Sofia ; Grandpeix‐Guyodo, Catherine ; Popovic Silwerfeldt, Karin...
Clinical Case Reports. 6 (2018) 11 - p. 2103-2110 , 2018

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

6

Studies of genetic mosaicism in rare diseases:

Frisk, Sofia
I. Frisk S, Taylan F, Blaszczyk I, Nennesmo I, Annerén G, Herm B, Stattin EL, Zachariadis V, Lindstrand A, Tesi B, Laurell T, Nordgren A. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Clinical Genetics. 2019 Aug;96(2):118-125. ::doi::10.1111/cge.13543 ::pmid::30919936 ::isi::000474933200002. , 2022

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

7

A complex DICER1 syndrome phenotype associated with a germl..:

Pontén, Emeli ; Frisk, Sofia ; Taylan, Fulya...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788248/. , 2022

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

8

Early activating somatic PIK3CA mutations promote ectopic m..:

Frisk, Sofia ; Taylan, Fulya ; Blaszczyk, Izabela...
Clinical Genetics, 0009-9163, 2019, 96:2, s. 118-125. , 2019

Link: http://urn.kb.se/resolve..

9

Early activating somatic PIK3CA mutations promote ectopic m..:

Frisk, Sofia ; Taylan, Fulya ; Blaszczyk, Izabela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851821/. , 2019

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

10

Goltz syndrome in males: A clinical report of a male patien..:

Frisk, Sofia ; Grandpeix‐Guyodo, Catherine ; Popovic Silwerfeldt, Karin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230642/. , 2018

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

11

Att vårda patienter med HIV – Sjuksköterskans upplevelse : ..:

Engberg, Emma ; Frisk, Sofia
http://urn.kb.se/resolve?urn=urn:nbn:se:miun:diva-31775. , 2017

Link: http://urn.kb.se/resolve..

12

Rätten att bli bortglömd : i ljuset av EU-domstolens förhan..:

Frisk, Sofia
http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-115520. , 2015

Link: http://urn.kb.se/resolve..

13

Detection of germline mosaicism in fathers of children with..:

Sofia Frisk ; Alexandra Wachtmeister ; Tobias Laurell...
https://doi.org/10.1002/mgg3.1880. , 2022

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

14

Ambulanssjuksköterskors upplevelser av att använda RETTS i ..:

Andersson, Daniel ; Ydrefalk Frisk, Sofia
http://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-58584. , 2017

Link: http://urn.kb.se/resolve..

15

The human cathelicidin hCAP‐18 in serum of children with ha..:

Jackmann, Natalja ; Englund, Sofia ; Frisk, Per...
British Journal of Haematology. 198 (2022) 6 - p. 1023-1031 , 2022

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