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Saarinen, Inka
73  results:
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1

P577: Genetic findings in afor cohort of over 1,800 patient..:

Hathaway, Julie ; Huusko, Johanna ; Cicerchia, Marcos...
Genetics in Medicine Open.  2 (2024)  - p. 101483 , 2024
Link: https://doi.org/10.1016/..
 
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2

P622: Genetic results in a cohort of 489 patients with inhe..:

Gall, Kim ; Hathaway, Julie ; Koskinen, Lotta...
Genetics in Medicine Open.  2 (2024)  - p. 101528 , 2024
Link: https://doi.org/10.1016/..
 
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3

Diagnostic yield of genetic testing in a multinational hete..:

Heliö, Krista ; Cicerchia, Marcos ; Hathaway, Julie...
Frontiers in Cardiovascular Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Genetic Findings from a Multigene Panel for Autoinflammator..:

Howell, Victoria ; Gall, Kimberly ; Scocchia, Alicia...
Clinical Immunology.  250 (2023)  - p. 109395 , 2023
Link: https://doi.org/10.1016/..
 
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5

P465: The occurrence of noncoding variants, copy number var..:

Gall, Kimberly ; Hathaway, Julie ; Howell, Victoria...
Genetics in Medicine Open.  1 (2023)  1 - p. 100512 , 2023
Link: https://doi.org/10.1016/..
 
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P487: Genetic findings from multi-gene panel for primary ci..:

Howell, Victoria ; Huusko, Johanna ; Bernal, Manuel...
Genetics in Medicine Open.  1 (2023)  1 - p. 100534 , 2023
Link: https://doi.org/10.1016/..
 
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7

Opt‐in for secondary findings as part of diagnostic whole‐e..:

Brunfeldt, Minna ; Kaare, Milja ; Saarinen, Inka..
Molecular Genetics & Genomic Medicine.  11 (2023)  8 - p. , 2023
Link: https://doi.org/10.1002/..
 
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8

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselec..:

Tuupanen, Sari ; Gall, Kimberly ; Sistonen, Johanna...
Translational Vision Science & Technology.  11 (2022)  1 - p. 6 , 2022
Link: https://doi.org/10.1167/..
 
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9

eP398: Searching beyond the exons in nuclear genes: Diagnos..:

Scocchia, Alicia ; Gall, Kimberly ; Hathaway, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S250-S251 , 2022
Link: https://doi.org/10.1016/..
 
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10

eP358: Genetic findings in a cohort of patients with pulmon..:

Hathaway, Julie ; Cicerchia, Marcos ; Tommiska, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S224-S225 , 2022
Link: https://doi.org/10.1016/..
 
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11

eP351: Next-generation sequencing panels for cystic kidney ..:

Hathaway, Julie ; Scocchia, Alicia ; Huusko, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S220 , 2022
Link: https://doi.org/10.1016/..
 
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12

Correction to: Diagnostic utility of next-generation sequen..:

Scocchia, Alicia ; Kangas-Kontio, Tiia ; Irving, Melita...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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13

eP359: Diagnostic yield of genetic testing in an unselected..:

Hathaway, Julie ; Cicerchia, Marcos ; Tommiska, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S225-S226 , 2022
Link: https://doi.org/10.1016/..
 
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14

eP399: Characterizing molecular diagnostic findings from ne..:

Scocchia, Alicia ; Gall, Kimberly ; Hathaway, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S251-S252 , 2022
Link: https://doi.org/10.1016/..
 
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15

Next-generation sequencing panels for hereditary hearing lo..:

Gall, Kim ; Tuupanen, Sari ; Sarantaus, Laura...
Molecular Genetics and Metabolism.  132 (2021)  - p. S221 , 2021
Link: https://doi.org/10.1016/..
 
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