Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nicholas C, Ackerman"'
Autor:
Marina Cerrone, Michael J. Ackerman, Mario Delmar, Nicholas C. Ackerman, Jaeger P. Ackerman, David J. Tester, John R. Giudicessi
Publikováno v:
JACC: Clinical Electrophysiology. 5:120-127
Objectives This study determined if radical plakophilin-2 (PKP2) variants might underlie some cases of clinically diagnosed catecholaminergic polymorphic ventricular tachycardia (CPVT) and exercise-associated, autopsy-negative sudden unexplained deat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa7093aec9ff0383a923c8d95c62344
https://doi.org/10.1016/j.jacep.2018.09.010
https://doi.org/10.1016/j.jacep.2018.09.010
Publikováno v:
Prenatal Diagnosis. 37:1040-1045
Objective To identify the underlying genetic cause for recurrent intrauterine fetal death (IUFD) of males. Methods Whole genome sequencing (WGS) was performed on DNA from 5 healthy obligatory carrier females and an unaffected male offspring of a mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab0d38fbd97df1f34fa82995fea1083c
https://doi.org/10.1002/pd.5142
https://doi.org/10.1002/pd.5142
Publikováno v:
Prenatal diagnosis. 37(10)
To identify the underlying genetic cause for recurrent intrauterine fetal death (IUFD) of males.Whole genome sequencing was performed on DNA from five healthy obligatory carrier females and an unaffected male offspring of a multigenerational pedigree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a0d0ae78ef6b05c42f8c9b93b02c64d9
https://pubmed.ncbi.nlm.nih.gov/28833278
https://pubmed.ncbi.nlm.nih.gov/28833278