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1 . Academic Journal
P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel
저자
by
Julie Hathaway
;
Johanna Huusko
;
Marcos Cicerchia
;
Saija Ahonen
;
Johanna Tommiska
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101483- (2024)
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7 . 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)
Full Text (ScienceDirect)
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7 .
Retrospective review of genetic testing for inherited bone marrow failure syndromes
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by
Kim Gall
;
Tero-Pekka Alastalo
;
Inka Saarinen
;
Elina Hirvonen
;
Emma Mårtensson
, et al.
소스
Molecular Genetics and Metabolism
. 132:S233-S234
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Scopus
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7 .
Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
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by
Tero-Pekka Alastalo
;
Tiia Kangas-Kontio
;
Inka Saarinen
;
Alicia Scocchia
;
Johanna Sistonen
, et al.
소스
Molecular Genetics and Metabolism
. 132:S221-S222
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7 .
Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions
저자
by
Marta Gandía
;
Tero-Pekka Alastalo
;
Inka Saarinen
;
Laura Sarantaus
;
Hatice Duzkale
, et al.
소스
Molecular Genetics and Metabolism
. 132:S221
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7 .
Biallelic NRAP variants are a significant cause of dilated cardiomyopathy
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by
Julie Hathaway
;
Pertelli Salmenpera
;
Jennifer Schleit
;
Tero-Pekka Alastalo
;
Juha Koskenvuo
, et al.
소스
Molecular Genetics and Metabolism
. 132:S220
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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
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7 .
Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
저자
by
Linlea Armstrong
;
Andre Mattman
;
Michelle Steinraths
;
Patricia Power
;
Janet Livingston
, et al.
소스
Prenatal Diagnosis
. 29:966-974
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7 .
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
저자
by
Jan M. Friedman
;
Sylvie Langlois
;
Farah R. Zahir
;
Patrice Eydoux
;
Marco A. Marra
, et al.
소스
American Journal of Medical Genetics Part A
. :1257-1262
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