Mazzeu, Bruna F.
30  results:
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10

SHORT syndrome in an adult Brazilian patient:

Gonçalves, Ana Caroline G. ; Moretti, Patricia N. ; Cordoba, Mara S....
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1635-1638 , 2022
 
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11

Novel pathogenic variants and quantitative phenotypic analy..:

Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian J....
Human Genetics and Genomics Advances.  3 (2022)  1 - p. 100074 , 2022
 
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13

50 years of Robinow syndrome:

Mazzeu, Juliana F. ; Brunner, Han G.
American Journal of Medical Genetics Part A.  182 (2020)  9 - p. 2005-2007 , 2020
 
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14

Characterization of the Robinow syndrome skeletal phenotype..:

Shayota, Brian J. ; Zhang, Chaofan ; Shypailo, Roman J....
American Journal of Medical Genetics Part A.  182 (2020)  11 - p. 2632-2640 , 2020
 
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15

Novel pathogenic genomic variants leading to autosomal domi..:

Zhang, Chaofan ; Mazzeu, Juliana F. ; Eisfeldt, Jesper...
American Journal of Medical Genetics Part A.  185 (2020)  12 - p. 3593-3600 , 2020
 
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