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Bioinformatics (Oxford, England)
|
May 7, 2016
Sparse group factor analysis for biclustering of multiple data sources
Kerstin Bunte, Eemeli Leppäaho, Inka Saarinen, et al.
Molecular Genetics & Genomic Medicine
|
April 7, 2023
Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory
Minna Brunfeldt, Milja Kaare, Inka Saarinen, et al.
NAR Genomics and Bioinformatics
|
October 17, 2025
Comparison of missing data handling methods for variant pathogenicity predictors
Mikko Särkkä, Sami Myöhänen, Kaloyan Marinov, et al.
Plos One
|
September 1, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Kimberly Gall, Emanuela Izzo, Eija H Seppälä, et al.
Orphanet Journal of Rare Diseases
|
February 18, 2022
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, et al.
Orphanet Journal of Rare Diseases
|
October 10, 2021
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, et al.
Kidney Medicine
|
January 9, 2026
Results of Multigene Panel Testing, Including <i>PKD1</i>, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis
Erin E Tapper, Johanna M Huusko, Alicia M Scocchia, et al.
Frontiers in Cardiovascular Medicine
|
October 5, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
Krista Heliö, Marcos Cicerchia, Julie Hathaway, et al.
Frontiers in Genetics
|
December 13, 2021
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
Krista Heliö, Mikko I Mäyränpää, Inka Saarinen, et al.
BMC Cardiovascular Disorders
|
March 6, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Julie Hathaway, Krista Heliö, Inka Saarinen, et al.
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Search research articles
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
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Bioinformatics (Oxford, England)
|
May 7, 2016
Sparse group factor analysis for biclustering of multiple data sources
Kerstin Bunte, Eemeli Leppäaho, Inka Saarinen, et al.
Molecular Genetics & Genomic Medicine
|
April 7, 2023
Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory
Minna Brunfeldt, Milja Kaare, Inka Saarinen, et al.
NAR Genomics and Bioinformatics
|
October 17, 2025
Comparison of missing data handling methods for variant pathogenicity predictors
Mikko Särkkä, Sami Myöhänen, Kaloyan Marinov, et al.
Plos One
|
September 1, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Kimberly Gall, Emanuela Izzo, Eija H Seppälä, et al.
Orphanet Journal of Rare Diseases
|
February 18, 2022
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, et al.
Orphanet Journal of Rare Diseases
|
October 10, 2021
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, et al.
Kidney Medicine
|
January 9, 2026
Results of Multigene Panel Testing, Including <i>PKD1</i>, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis
Erin E Tapper, Johanna M Huusko, Alicia M Scocchia, et al.
Frontiers in Cardiovascular Medicine
|
October 5, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
Krista Heliö, Marcos Cicerchia, Julie Hathaway, et al.
Frontiers in Genetics
|
December 13, 2021
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
Krista Heliö, Mikko I Mäyränpää, Inka Saarinen, et al.
BMC Cardiovascular Disorders
|
March 6, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Julie Hathaway, Krista Heliö, Inka Saarinen, et al.
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of 2