Boyadjiev, SA
10  Ergebnisse:
Personensuche X
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7

SMAD6 variants in craniosynostosis: genotype and phenotype ..:

Calpena, E ; Cuellar, A ; Bala, K...
Calpena , E , Cuellar , A , Bala , K , Swagemakers , S , Koelling , N , McGowan , SJ , Phipps , JM , Balasubramanian , M , Cunningham , ML , Douzgou , S , Lattanzi , W , Morton , JEV , Shears , D , Weber , A , Wilson , LC , Lord , H , Lester , T , Johnson , D , Wall , SA , Twigg , SRF , Mathijssen , I , Boardman-Pretty , F , Boyadjiev , SA & Wilkie , AOM 2020 , ' SMAD6 variants in craniosynostosis: genotype and phenotype evaluation ' , Genetics in Medicine , vol. 22 , no. 9 , pp. 1498-1506 . https://doi.org/10.1038/s41436-020-0817-2.  , 2020
 
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8

Pegunigalsidase alfa, a novel PEGylated enzyme replacement ..:

Schiffmann, R ; Goker-Alpan, O ; Holida, M...
https://discovery.ucl.ac.uk/id/eprint/10072975/1/Schiffmann_et_al-2019-Journal_of_Inherited_Metabolic_Disease.pdf.  , 2019
 
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10

Epidemiological survey of 214 families with bladder exstrop..:

Gambhir, L ; Höller, T ; Müller, M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674109.  , 2008
 
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