Blackburn, Patrick R.
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Personensuche X
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Further clinical and molecular characterization of an XLID ..:

Delanne, Julian ; Lecat, Magaly ; Blackburn, Patrick R...
https://research.rug.nl/en/publications/896f887a-c71a-44dd-b14b-5b9640c1d167.  , 2023
 
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Structural models for the dynamic effects of loss-of-functi..:

Coban, Mathew A ; Blackburn, Patrick R ; Whitelaw, Murray L...
Coban , M A , Blackburn , P R , Whitelaw , M L , van Haelst , M M , Atwal , P S & Caulfield , T R 2020 , ' Structural models for the dynamic effects of loss-of-function variants in the human sim1 protein transcriptional activation domain ' , Biomolecules , vol. 10 , no. 9 , 1314 , pp. 1-17 . https://doi.org/10.3390/biom10091314.  , 2020
 
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Widening of the genetic and clinical spectrum of Lamb-Shaff..:

Zawerton, Ash ; Mignot, Cyril ; Sigafoos, Ashley...
https://research.rug.nl/en/publications/ae67cc8c-ab35-4574-8daf-9e35883ae39f.  , 2020
 
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An activating germline IDH1 variant associated with a tumor..:

Blackburn, Patrick R ; Carter, Jodi M ; Oglesbee, Devin...
Blackburn , P R , Carter , J M , Oglesbee , D , Westendorf , J J , Neff , B A , Stichel , D , Tsen , D W , Gavrilova , R H , Wesseling , P , von Deimling , A , Caulfield , T R , Klee , E W , Pusch , S & Inwards , C Y 2020 , ' An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid ' , Human Genetics and Genomics Advances , vol. 1 , no. 1 , 100006 . https://doi.org/10.1016/j.xhgg.2020.100006.  , 2020
 
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