Kesselheim, Anne L.
17  results:
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5

A Founder Mutation in EHD1 Presents with Tubular Proteinuri..:

Issler, Naomi ; Afonso, Sara ; Weissman, Irith...
https://discovery.ucl.ac.uk/id/eprint/10147913/1/EHD1-manuscript-2021-12-16fn.pdf.  , 2022
 
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Molecular Basis for Autosomal-Dominant Renal Fanconi Syndro..:

Marchesin, Valentina ; Pérez-Martí, Albert ; Le Meur, Gwenn...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.celrep.2019.11.066.  , 2019
 
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10

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemi..:

Cabezas, Oscar Rubio ; Flanagan, Sarah E ; Stanescu, Horia...
Cabezas , O R , Flanagan , S E , Stanescu , H , García-Martínez , E , Caswell , R , Lango-Allen , H , Antón-Gamero , M , Argente , J , Bussell , A M , Brandli , A , Cheshire , C , Crowne , E , Dumitriu , S , Drynda , R , Hamilton-Shield , J P , Hayes , W , Hofherr , A , Iancu , D , Issler , N , Jefferies , C , Jones , P , Johnson , M , Kesselheim , A , Klootwijk , E , Koettgen , M , Lewis , W , Martos , J M , Mozere , M , Norman , J , Patel , V , Parrish , A , Pérez-Cerdá , C , Pozo , J , Rahman , S A , Sebire , N , Tekman , M , Turnpenny , P D , Van'T Hoff , W , Viering , D H H M , Weedon , M N , Wilson , P , Guay-Woodford , L , Kleta , R , Hussain , K , Ellard , S & Bockenhauer , D 2017 , ' Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 ' , Journal of the American Society of Nephrology , vol. 28 , no. 8 , pp. 2529-2539 . https://doi.org/10.1681/ASN.2016121312.  , 2017
 
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14

Genetic and molecular studies in Hyperinsulinemic Hypoglyce..:

Kesselheim, Anne Lore
https://discovery.ucl.ac.uk/id/eprint/10057201/1/PhD%20Thesis_Anne%20Kesselheim_ETHESIS.pdf.  , 2018
 
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15

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndro..:

Valentina Marchesin ; Albert Pérez-Martí ; Gwenn Le Meur...
http://www.sciencedirect.com/science/article/pii/S2211124719315578.  , 2019
 
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