Kimberly Gall
Overview
Explore the profile of Kimberly Gall including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
49
Followers
0
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Recent Articles
1.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, et al.
Orphanet J Rare Dis
. 2022 Feb;
17(1):59.
PMID: 35177119
No abstract available.
2.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kampjarvi K, Wells K, et al.
Transl Vis Sci Technol
. 2022 Jan;
11(1):6.
PMID: 34985506
Purpose: Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was...
3.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, et al.
Orphanet J Rare Dis
. 2021 Oct;
16(1):412.
PMID: 34627339
Background: Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead...
4.
Gall K, Izzo E, Seppala E, Alakurtti K, Koskinen L, Saarinen I, et al.
PLoS One
. 2021 Sep;
16(9):e0255933.
PMID: 34469436
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (<24...
5.
Araia M, Wilson B, Chakraborty P, Gall K, Honeywell C, Milburn J, et al.
Genet Med
. 2012 Aug;
14(12):963-70.
PMID: 22899093
Purpose: Effective parental education about newborn blood-spot screening may facilitate prompt follow-up, reduce psychosocial harms, and promote trust in screening programs. However, little is known about the aspects of education...