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1.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet
; 102(1): 188-195, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29304374
2.
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
BMC Med Genet
; 19(1): 100, 2018 06 15.
Article
in English
| MEDLINE | ID: mdl-29907092
3.
A case of a large leiomyomatous uterus with multiple arteriovenous malformations and subsequent high cardiac output state with severe four chamber cardiac enlargement.
Gynecol Oncol Rep
; 38: 100898, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34926776
4.
Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting.
Mayo Clin Proc
; 96(6): 1407-1417, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33890576
5.
Genomics Integration Into Nephrology Practice.
Kidney Med
; 3(5): 785-798, 2021.
Article
in English
| MEDLINE | ID: mdl-34746741
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