Sutton, V. Reid
195  Ergebnisse:
Personensuche X
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Novel pathogenic variants and quantitative phenotypic analy..:

Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian J...
Zhang , C , Jolly , A , Shayota , B J , Mazzeu , J F , Du , H , Dawood , M , Soper , P C , Ramalho de Lima , A , Ferreira , B M , Coban-Akdemir , Z , White , J , Shears , D , Thomson , F R , Wainwright , A , Wordsworth , P , Oldridge , M , Lester , T , Calder , A D , Dumic , K , Banka , S , Donnai , D , Jhangiani , S N , Potocki , L , Chung , W K , Mora , S , Northrup , H , Ashfaq , M , Rosenfeld , J A , Mason , K , Pollack , L C , McConkie-Rosell , A , Kelly , W , McDonald , M , Hauser , N S , Leahy , P , Powell , C M , Boy , R , Honjo , R S , Kok , F , Martelli , L R , Filho , V O , Genomics England Research Consortium , Muzny , D M , Gibbs , R A , Posey , J E , Liu , P , Lupski , J R & Sutton , V R 2022 , ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ' , Human Genetics and Genomics Advances , vol. 3 , no. 1 , 100074 . https://doi.org/10.1016/j.xhgg.2021.100074.  , 2022
 
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De novo variants in FRMD5 are associated with developmental..:

Lu, Shenzhao ; Ma, Mengqi ; Mao, Xiao...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606480/.  , 2022
 
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G ; Herman, Isabella ; Maroofian, Reza...
https://discovery.ucl.ac.uk/id/eprint/10150917/2/Houlden_ENTPD1%20Annals%20of%20Neurology%20R1%201.31.22_JEP160442.pdf.  , 2022
 
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