Boy, Raquel
87  Ergebnisse:
Personensuche X
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6

Novel pathogenic variants and quantitative phenotypic analy..:

Chaofan Zhang ; Angad Jolly ; Brian J. Shayota...
http://www.sciencedirect.com/science/article/pii/S2666247721000555.  , 2022
 
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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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8

Genotype–phenotype studies in a large cohort of Brazilian p..:

Josahkian, Juliana Alves ; Brusius‐Facchin, Ana Carolina ; Netto, Alice Brinckmann Oliveira...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  3 - p. 349-356 , 2021
 
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