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Koskenvuo, Juha W.
168  results:
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1

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythm..:

Heliö, Krista ; Brandt, Eveliina ; Vaara, Satu...
Frontiers in Cardiovascular Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

A Systematic Analysis of the Clinical Outcome Associated wi..:

Nagyova, Emilia ; Hoorntje, Edgar T. ; te Rijdt, Wouter P....
Journal of Cardiovascular Translational Research.  16 (2023)  6 - p. 1276-1286 , 2023
Link: https://doi.org/10.1007/..
 
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3

Monogenic gene variants in lung transplant recipients with ..:

Stark, Christoffer ; Koskenvuo, Juha W. ; Nykänen, Antti...
ERJ Open Research.  8 (2022)  1 - p. 00583-2021 , 2022
Link: https://doi.org/10.1183/..
 
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4

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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5

ESC EORP Cardiomyopathy Registry: real‐life practice of gen..:

Heliö, Tiina ; Elliott, Perry ; Koskenvuo, Juha W....
ESC Heart Failure.  7 (2020)  5 - p. 3013-3021 , 2020
Link: https://doi.org/10.1002/..
 
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6

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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7

Scaling resolution of variant classification differences in..:

Harrison, Steven M. ; Dolinksy, Jill S. ; Chen, Wenjie...
Human Mutation.  39 (2018)  11 - p. 1641-1649 , 2018
Link: https://doi.org/10.1002/..
 
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8

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monog..:

Vanninen, Sari U. M. ; Leivo, Krista ; Seppälä, Eija H....
PLOS ONE.  13 (2018)  9 - p. e0203422 , 2018
Link: https://doi.org/10.1371/..
 
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9

Case reports of two pedigrees with recessive arrhythmogenic..:

Qadri, Sami ; Anttonen, Olli ; Viikilä, Juho...
BMC Medical Genetics.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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10

Genetics and genotype–phenotype correlations in Finnish pat..:

Akinrinade, Oyediran ; Ollila, Laura ; Vattulainen, Sanna...
European Heart Journal.  36 (2015)  34 - p. 2327-2337 , 2015
Link: https://doi.org/10.1093/..
 
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11

Expanding the phenotype of Timothy syndrome type 2: An adol..:

Hiippala, Anita ; Tallila, Jonna ; Myllykangas, Samuel..
American Journal of Medical Genetics Part A.  167 (2015)  3 - p. 629-634 , 2015
Link: https://doi.org/10.1002/..
 
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12

Reference Values for Echocardiography in Middle‐Aged Popula..:

Ruohonen, Saku ; Koskenvuo, Juha W. ; Wendelin‐Saarenhovi, Maria...
Echocardiography.  33 (2015)  2 - p. 193-206 , 2015
Link: https://doi.org/10.1111/..
 
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13

Accurate genetic diagnosis of Finnish pulmonary arterial hy..:

Vattulainen, Sanna ; Aho, Joonas ; Salmenperä, Pertteli...
Molecular Genetics & Genomic Medicine.  3 (2015)  4 - p. 354-362 , 2015
Link: https://doi.org/10.1002/..
 
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14

No cardiomyopathy in X-linked myopathy with excessive autop..:

Saraste, Antti ; Koskenvuo, Juha W. ; Airaksinen, Juhani...
Neuromuscular Disorders.  25 (2015)  6 - p. 485-487 , 2015
Link: https://doi.org/10.1016/..
 
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15

Prevalence of Titin Truncating Variants in General Populati..:

Akinrinade, Oyediran ; Koskenvuo, Juha W. ; Alastalo, Tero-Pekka.
PLOS ONE.  10 (2015)  12 - p. e0145284 , 2015
Link: https://doi.org/10.1371/..
 
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