Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kristen De Berg"'
Autor:
Laura Lopez Santibanez Jacome, Lisa M. Dellefave‐Castillo, Catherine A. Wicklund, Courtney L. Scherr, Debra Duquette, Gregory Webster, Maureen E. Smith, Kerstin Kalke, Adam S. Gordon, Kristen De Berg, Elizabeth M. McNally, Laura J. Rasmussen‐Torvik
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 7 (2022)
Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk
Externí odkaz:
https://doaj.org/article/313b0e60cf574ae581256ac2f59e6d6d
Autor:
Jordan Baye, Amanda Massmann, Natasha Petry, Joel Van Heukelom, Kristen De Berg, April Schultz, Catherine Hajek
Publikováno v:
Journal of Translational Genetics and Genomics. 6:375-387
Aim: Long QT syndrome (LQTS) is an inherited condition that predisposes individuals to prolongation of the QT interval and increased risk for Torsade de Pointes. Pathogenic variants in three genes - KCNH2, KCNQ1 and SCN5A - are responsible for most c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::240929cf6eb3d1e8775e380f963589db
https://doi.org/10.20517/jtgg.2022.12
https://doi.org/10.20517/jtgg.2022.12
Publikováno v:
South Dakota medicine : the journal of the South Dakota State Medical Association. 68(3)
Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. In 2012, when BCS clinical testing was not available, we reported two babies believed to have BCS based upon their clinical features. Diagnostic molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c79a7ed8be3fea6aceed899bfb5b419
https://pubmed.ncbi.nlm.nih.gov/25906497
https://pubmed.ncbi.nlm.nih.gov/25906497
Autor:
Nic, Torbert, Suzanne, Reuter, Angela, Myers, Kristen, De Berg, Patricia L, Crotwell, Jason D, Flanagan
Publikováno v:
South Dakota medicine : the journal of the South Dakota State Medical Association. 68(2)
Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c20104110a43af5cce8e70983bd6b99
https://pubmed.ncbi.nlm.nih.gov/25799636
https://pubmed.ncbi.nlm.nih.gov/25799636