Herkert, JC
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3

Expanding the clinical and genetic spectrum of ALPK3 varian..:

Herkert, JC ; Verhagen, Judith ; Yotti, R...
https://pure.eur.nl/en/publications/5c3c332f-cef7-4286-9469-c8fed452065f.  , 2020
 
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4

Expanding the clinical and genetic spectrum of ALPK3 varian..:

Herkert, JC ; Verhagen, Judith ; Yotti, R...
Herkert , JC , Verhagen , J , Yotti , R , Haghighi , A , Phelan , DG , James , PA , Brown , NJ , Stutterd , C , Macciocca , I , Leong , K , Bulthuis , MLC , Bever , Y , van Slegtenhorst , M , Boven , LG , Roberts , AE , Agarwal , R , Seidman , J , Lakdawala , NK , Fernandez-Aviles , F , Burke , MA , Pierpont , ME , Braunlin , E , Aaglayan , AO , Barge-Schaapveld , D , Birnie , E , Van Osch - Gevers , L , van Langen , IM , Jongbloed , JD , Lockhart , PJ , Amor , DJ , Seidman , CE & De Graaf - van de Laar , I 2020 , ' Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants ' , American Heart Journal , vol. 225 , pp. 108-119 . https://doi.org/10.1016/j.ahj.2020.03.023.  , 2020
 
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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associate..:

van der Linde, IHM ; Hiemstra, YL ; Bokenkamp, R...
van der Linde , IHM , Hiemstra , YL , Bokenkamp , R , Mil , A , Breuning , MH , Ruivenkamp , C , ten Broeke , SW , Veldkamp , RF , Waning , J , van Slegtenhorst , MA , Spaendonck-Zwarts , KY , Deprez , RHL , Herkert , JC , Boven , LA , van der Zwaag , PA , Jongbloed , JDH , Bootsma , M & Barge-Schaapveld , D 2017 , ' A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects ' , Netherlands Heart Journal , vol. 25 , no. 12 , pp. 675-681 . https://doi.org/10.1007/s12471-017-1037-5.  , 2017
 
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De Novo Truncating Mutations in the Last and Penultimate Ex..:

Jansen, S ; Geuer, S ; Pfundt, R...
https://radar.brookes.ac.uk/radar/items/620aa9f9-89d1-4d1d-bc93-d7981235ed1d/1/.  , 2017
 
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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associate..:

van der Linde, IHM ; Hiemstra, YL ; Bokenkamp, R...
https://pure.eur.nl/en/publications/5386d4cd-896e-43dc-9acd-527f1d3cc1dd.  , 2017
 
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