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1 . Academic Journal
P622: Genetic results in a cohort of 489 patients with inherited myopathies
저자
by
Kim Gall
;
Julie Hathaway
;
Lotta Koskinen
;
Kirsi Alakurtti
;
Äsa Hagström
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101528- (2024)
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7 . Academic Journal
RAB23 regulates musculoskeletal development and patterning
저자
by
Md. Rakibul Hasan
;
Anna Koskenranta
;
Kirsi Alakurtti
;
Maarit Takatalo
;
David P. Rice
.
소스
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
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Web of Science
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7 . Academic Journal
P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants
저자
by
Alicia Scocchia
;
Allison Sluyters
;
Margarita Andreevskaya
;
Kirsi Alakurtti
;
Paivi Kokkonen
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100601- (2023)
Full Text (ScienceDirect)
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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
Kimberly Gall
;
Emanuela Izzo
;
Eija H Seppälä
;
Kirsi Alakurtti
;
Lotta Koskinen
, et al.
소스
PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
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7 .
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
저자
by
Lotta L. E. Koskinen
;
Emanuela Izzo
;
Eija H. Seppälä
;
Tero-Pekka Alastalo
;
Kirsi Alakurtti
, et al.
소스
Molecular Genetics and Metabolism
. 132:S100-S101
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7 .
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
저자
by
Emanuela Izzo
;
Samuel Myllykangas
;
Inka Saarinen
;
Kimberly Gall
;
Kirsi Alakurtti
, et al.
소스
PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
PLoS ONE
Open Access (OpenAIRE)
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7 .
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update
저자
by
Kirsi Alakurtti
;
Eija H. Seppälä
;
Lotta L. E. Koskinen
;
Khalida Liaquat
;
Tero-Pekka Alastalo
, et al.
소스
Molecular Genetics and Metabolism
. 132:S59
Web of Science
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7 .
Utility of gene panel testing in children with seizure onset after 2 years of age: Results from a European and Middle Eastern epilepsy genetic testing program
저자
by
Lotta L. E. Koskinen
;
Emanuela Izzo
;
Kirsi Alakurtti
;
Eija H. Seppälä
;
Tero-Pekka Alastalo
, et al.
소스
Molecular Genetics and Metabolism
. 129:S80
Web of Science
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7 .
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
저자
by
Mervi Kuronen
;
Saara Tegelberg
;
Laura Huopaniemi
;
Antti P. Aalto
;
Nina Aula
, et al.
소스
European Journal of Human Genetics
. 15:185-193
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7 .
Prevention of Premature Fusion of Calvarial Suture in GLI-Kruppel Family Member 3 (Gli3)-deficient Mice by Removing One Allele of Runt-related Transcription Factor 2 (Runx2)*
저자
by
Maarit Takatalo
;
Yukiho Tanimoto
;
David P. Rice
;
Lotta Veistinen
;
Kirsi Alakurtti
.
소스
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