Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Bassem Bejjani"'
Autor:
Jamie Armour, Bassem Bejjani, Cassidi D. Kalejta, Sonja Eubanks Higgins, Jeff Greenberg, Sucheta Bhatt, Denise Bulpitt, Amanda Elms, Hilary B. Kershberg, Kerry Cooke, Shawnia Ryan, Monica Alvarado
Publikováno v:
Journal of genetic counseling. 28(4)
We designed and implemented a novel automated negative non-invasive prenatal test (NIPT) result disclosure process using a proprietary, HIPAA-compliant web-based portal. High-risk pregnant patients who opted for NIPT from 04/2017 to 12/2018 were give
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e45567fc50db6b25659eb551f10a7e70
https://pubmed.ncbi.nlm.nih.gov/31038280
https://pubmed.ncbi.nlm.nih.gov/31038280
Extensive progress in human genetics and clinical diagnostics allowed identification of the majority of genetically-related diseases. Still, the genes responsible for numerous diseases have not been recognized and frequently the disease etiology rema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c0b8676844c89bc4fa0c69191e035be
Autor:
Bassem Bejjani, Marvin R. Natowicz
Publikováno v:
American Journal of Medical Genetics. 49:149-169
There are many genetic disorders that have signs and symptoms suggestive of multiple sclerosis and that may easily be overlooked in the evaluation of both adult and pediatric multiple sclerosis patients. The recognition of a genetic disorder as the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ca70c25fe530d76a2e81860ad8a187
https://doi.org/10.1002/ajmg.1320490202
https://doi.org/10.1002/ajmg.1320490202
Autor:
Gabriela, Chavarria-Soley, Karin, Michels-Rautenstrauss, Francesca, Pasutto, David, Flikier, Paul, Flikier, Sebahattin, Cirak, Bassem, Bejjani, Daniel L, Winters, Richard A, Lewis, Christian, Mardin, Andre, Reis, Bernd, Rautenstrauss
Publikováno v:
Molecular vision. 12
Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups. Cytochrome P450 proteins are monooxygenases, which catalyze many reactions involved in the metabolism of drugs as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04ec5184f71b0d52e6358de46f048fa5
https://pubmed.ncbi.nlm.nih.gov/16735994
https://pubmed.ncbi.nlm.nih.gov/16735994
Publikováno v:
Clinical genetics. 39(4)
We performed genetic analysis for carrier detection for several at-risk females in a four-generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98c2a04953a42a9e06f9f6e363a7e2f9
https://pubmed.ncbi.nlm.nih.gov/2070545
https://pubmed.ncbi.nlm.nih.gov/2070545