Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Samantha R. Stover"'
Autor:
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive
Externí odkaz:
https://doaj.org/article/051927d1f13244f69c11c6174e04afab
Autor:
Auda M. Plaud Gonzalez, Catherine Joseph, Samantha R. Stover, Ahmed Nassr, Chester J. Koh, Joseph R. Angelo, Michael C. Braun
Publikováno v:
Kidney360. 4:333-340
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a3044750f4a505188c97794bd8ce852
https://doi.org/10.34067/kid.0004782022
https://doi.org/10.34067/kid.0004782022
Autor:
Sakyu, Takuya1,2 (AUTHOR), Stover, Samantha R.2,3,4 (AUTHOR), Wang, Yue1,2 (AUTHOR), Ward, Patricia1,2 (AUTHOR), Gandhi, Manisha3,4 (AUTHOR), Braun, Michael C.3,4,5,6 (AUTHOR), Van den Veyver, Ignatia B.2,3,4 (AUTHOR), Bi, Weimin1,2 (AUTHOR) wbi@bcm.edu
Publikováno v:
Clinical Case Reports. Feb2023, Vol. 11 Issue 2, p1-6. 6p.