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1 . Academic Journal
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis
저자
by
Perälä, Miia
;
Kaustio, Meri
;
Salava, Alexander
;
Jakkula, Eveliina
;
Pelkonen, Anna S.
, et al.
소스
In
JID Innovations
July 2023 3(4)
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7 . Academic Journal
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish European, Finnish, and Ashkenazi Jewish populations.
저자
by
Kandolin, Miska
;
Pöyhönen, Minna
;
Jakkula, Eveliina
.
소스
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-11, 11p
Web of Science
Scopus
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5 . Academic Journal
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.
저자
by
Mars, Nina
;
Kerminen, Sini
;
Tamlander, Max
;
Pirinen, Matti
;
Jakkula, Eveliina
, et al.
소스
Journal of Clinical Oncology; 5/1/2024, Vol. 42 Issue 13, p1477-1487, 22p
Web of Science
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7 . Academic Journal
Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica
저자
by
Noponen-Hietala, Noora
;
Virtanen, Iita
;
Karttunen, Riitta
;
Schwenke, Susanne
;
Jakkula, Eveliina
, et al.
소스
In
Pain
2005 114(1):186-194
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7 . Academic Journal
Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.
저자
by
Strang‐Karlsson, Sonja
;
Keigwin, Sylvia
;
Anttonen, Anna‐Kaisa
;
Baker, Duncan
;
Bean, Kerry
, et al.
소스
Clinical Case Reports
. Oct2022, Vol. 10 Issue 10, p1-5. 5p.
Open Access (Wiley)
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7 . Academic Journal
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
저자
by
Hakonen, Anna H.
;
Lehtonen, Johanna
;
Kivirikko, Sirpa
;
Keski‐Filppula, Riikka
;
Moilanen, Jukka
, et al.
소스
American Journal of Medical Genetics. Part A; Nov2020, Vol. 182 Issue 11, p2605-2610, 6p
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7 . Academic Journal
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
저자
by
Hakonen, Anna H.
;
Polvi, Anne
;
Saloranta, Carola
;
Paetau, Anders
;
Heikkilä, Päivi
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2019, Vol. 179 Issue 7, p1362-1365, 4p
Web of Science
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7 . Academic Journal
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
저자
by
Skarp, Sini
;
Kämäräinen, Olli-Pekka
;
Wei, Gong-Hong
;
Jakkula, Eveliina
;
Kiviranta, Ilkka
, et al.
소스
PLoS ONE
. 8/29/2018, Vol. 13 Issue 8, p1-12. 12p.
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7 . Academic Journal
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
저자
by
Anttonen, Anna-Kaisa
;
Laari, Anni
;
Kousi, Maria
;
Yang, Yawei J.
;
Jääskeläinen, Tiina
, et al.
소스
Brain: A Journal of Neurology
. May2017, Vol. 140 Issue 5, p1267-1279. 13p.
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7 . Academic Journal
The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients.
저자
by
LUUKKONEN, Tiia Maria
;
KIISKI, Ville
;
AHOLA, Maria
;
MANDELIN, Johanna
;
VIRTANEN, Hannele
, et al.
소스
Acta Dermato-Venereologica
. Apr2017, Vol. 97 Issue 4, p456-463. 8p.
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