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1 . Academic Journal
KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland
저자
by
Seppälä, Eija H.
;
Autio, Ville
;
Duggal, Priya
;
Ikonen, Tarja
;
Stenman, Ulf-Håkan
, et al.
소스
In
European Urology
October 2007 52(4):1076-1081
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7 . Academic Journal
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
저자
by
Gall, Kimberly
;
Izzo, Emanuela
;
Seppälä, Eija H.
;
Alakurtti, Kirsi
;
Koskinen, Lotta
, et al.
소스
PLoS ONE
. 9/1/2021, Vol. 16 Issue 9, p1-21. 21p.
Web of Science
Scopus
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7 . Academic Journal
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
저자
by
Koskenvuo, Juha W.
;
Saarinen, Inka
;
Ahonen, Saija
;
Tommiska, Johanna
;
Weckström, Sini
, et al.
소스
PLoS ONE
. 2/3/2021, Vol. 16 Issue 2, p1-13. 13p.
Web of Science
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7 . Academic Journal
Segregation of Point Mutation Heteroplasmy in the Control Region of Dog mtDNA Studied Systematically in Deep Generation Pedigrees
저자
by
Klutsch, Cornelya F. C.
;
Seppala, Eija H.
;
Uhlen, Mathias
;
Lohi, Hannes
;
Savolainen, Peter
.
소스
125 Int'l J. Legal Med. 527 (2011) / International Journal of Legal Medicine, Vol. 125, Issue 4 (July 2011), pp. 527-536
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7 . Academic Journal
Genome wide association study of 40 clinical measurements in eight dog breeds.
저자
by
Momozawa, Yukihide
;
Merveille, Anne-Christine
;
Battaille, Géraldine
;
Wiberg, Maria
;
Koch, Jørgen
, et al.
소스
Scientific Reports
. 4/16/2020, Vol. 10 Issue 1, p1-11. 11p.
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7 . Academic Journal
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
저자
by
Harrison, Steven M.
;
Dolinksy, Jill S.
;
Chen, Wenjie
;
Collins, Christin D.
;
Das, Soma
, et al.
소스
Human Mutation; Nov2018, Vol. 39 Issue 11, p1641-1649, 9p
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7 . Academic Journal
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
저자
by
Vanninen, Sari U. M.
;
Leivo, Krista
;
Seppälä, Eija H.
;
Aalto-Setälä, Katriina
;
Pitkänen, Olli
, et al.
소스
PLoS ONE
. 9/20/2018, Vol. 13 Issue 9, p1-14. 14p.
Web of Science
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7 . Academic Journal
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
저자
by
Hathaway, Julie
;
Heliö, Krista
;
Saarinen, Inka
;
Tallila, Jonna
;
Seppälä, Eija H.
, et al.
소스
BMC Cardiovascular Disorders
. 21(1)
Open Access (BioMed Central)
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7 . Academic Journal
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
저자
by
Qadri, Sami
;
Anttonen, Olli
;
Viikilä, Juho
;
Seppälä, Eija H.
;
Myllykangas, Samuel
, et al.
소스
BMC Medical Genetics
. 8/17/2017, Vol. 18 Issue 1, p1-9. 9p.
Open Access (BioMed Central)
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7 . Academic Journal
ADAM23 is a common risk gene for canine idiopathic epilepsy.
저자
by
Koskinen, Lotta L. E.
;
Seppälä, Eija H.
;
Weissl, Jutta
;
Jokinen, Tarja S.
;
Viitmaa, Ranno
, et al.
소스
BMC Genetics
. 1/31/2017, Vol. 18, p1-5. 5p.
Open Access (BioMed Central)
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