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Kangas-Kontio, Tiia
54  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

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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3

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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4

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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5

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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6

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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7

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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8

Biallelic loss-of-function in NRAP is a cause of recessive ..:

Koskenvuo, Juha W. ; Saarinen, Inka ; Ahonen, Saija...
PLOS ONE.  16 (2021)  2 - p. e0245681 , 2021
Link: https://doi.org/10.1371/..
 
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9

Diagnostic yield of genetic testing in a heterogeneous coho..:

Hathaway, Julie ; Heliö, Krista ; Saarinen, Inka...
BMC Cardiovascular Disorders.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Diagnostic utility of next-generation sequencing-based pane..:

Scocchia, Alicia ; Kangas-Kontio, Tiia ; Irving, Melita...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

Biallelic NRAP variants are a significant cause of dilated ..:

Gall, Kim ; Koskenvuo, Juha ; Saarinen, Inka...
Molecular Genetics and Metabolism.  132 (2021)  - p. S220 , 2021
Link: https://doi.org/10.1016/..
 
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12

Diagnostic utility of next-generation sequencing panel test..:

Scocchia, Alicia ; Kangas-Kontio, Tiia ; Pelttari, Liisa...
Molecular Genetics and Metabolism.  132 (2021)  - p. S221-S222 , 2021
Link: https://doi.org/10.1016/..
 
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13

DSP p.(Thr2104Glnfs*12) variant presents variably with earl..:

Heliö, Krista ; Kangas-Kontio, Tiia ; Weckström, Sini...
BMC Medical Genetics.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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14

Impaired HDL2-mediated cholesterol efflux is associated wit..:

Paavola, Timo ; Kuusisto, Sanna ; Jauhiainen, Matti...
PLOS ONE.  12 (2017)  2 - p. e0171993 , 2017
Link: https://doi.org/10.1371/..
 
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15

Plasma levels of antibodies against oxidized LDL are inheri..:

Paavola, Timo ; Kangas-Kontio, Tiia ; Salonurmi, Tuire...
Atherosclerosis.  224 (2012)  1 - p. 123-128 , 2012
Link: https://doi.org/10.1016/..
 
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