Cassinelli, Hamilton
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3

Sphingosine-1-phosphate lyase mutations cause primary adren..:

Prasad, Rathi ; Hadjidemetriou, Irene ; Maharaj, Avinaash...
Prasad , R , Hadjidemetriou , I , Maharaj , A , Meimaridou , E , Buonocore , F , Saleem , M , Hurcombe , J , Bierzynska , A , Barbagelata , E , Bergadá , I , Cassinelli , H , Das , U , Krone , R , Hacihamdioglu , B , Sari , E , Yesilkaya , E , Storr , H L , Clemente , M , Fernandez-Cancio , M , Camats , N , Ram , N , Achermann , J C , Van Veldhoven , P P , Guasti , L , Braslavsky , D , Guran , T & Metherell , L A 2017 , ' Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome ' , Journal of Clinical Investigation , vol. 127 , no. 3 , pp. 942-953 . https://doi.org/10.1172/JCI90171.  , 2017
 
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11

A Homozygous Mutation in the Highly Conserved Tyr60 of the ..:

Keselman, Ana Claudia ; Martin, Ayelen ; Scaglia, Paula Alejandra...
info:eu-repo/semantics/altIdentifier/url/https://eje.bioscientifica.com/view/journals/eje/aop/eje-19-0563.xml.  ,
 
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