Zobrazeno 1 - 10
of 198
pro vyhledávání: '"E. H. Brown"'
Autor:
Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz, Tippi C. MacKenzie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease onset and progression
Externí odkaz:
https://doaj.org/article/26b2ae6f02f64042b5ae5b03889d8f10
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
The causal mechanisms and manifestations of psychiatric illness cannot be neatly narrowed down or quantified for diagnosis and treatment. Large-scale genome-wide association studies (GWAS) might renew hope for locating genetic predictors and producin
Externí odkaz:
https://doaj.org/article/a6b2104131fe47aea5e38666e2c2dc37
Autor:
Simon M. Outram, Julia E. H. Brown, Astrid N. Zamora, Nuriye Sahin-Hodoglugil, Sara L. Ackerman
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Objective: To provide qualitative empirical data on parental expectations of diagnostic prenatal genomic sequencing and the value of the results to families.Methods: We interviewed 15 families—mothers and/or fathers—who had had prenatal genomic s
Externí odkaz:
https://doaj.org/article/cc774e024e01493aa39bbd49f0afa8c1
Autor:
Julia E. H. Brown, Astrid N. Zamora, Simon Outram, Teresa N. Sparks, Billie R. Lianoglou, Matthew Norstad, Nuriye N. Sahin Hodoglugil, Mary E. Norton, Sara L. Ackerman
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Genomic sequencing has been increasingly utilized for prenatal diagnosis in recent years and this trend is likely to continue. However, decision-making for parents in the prenatal period is particularly fraught, and prenatal sequencing would signific
Externí odkaz:
https://doaj.org/article/780481f2793545d8a7c1a36291de325c
Autor:
Elias Aboujaoude, Janice Light, Julia E. H. Brown, W. John Boscardin, Benedikt Hallgrímsson, Ophir D. Klein
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d466a90bc0e6f3b235c0104cfe8a882a
https://doi.org/10.1002/ajmg.c.32035
https://doi.org/10.1002/ajmg.c.32035
Autor:
Megan L. Koleske, Gregory McInnes, Julia E. H. Brown, Neil Thomas, Keino Hutchinson, Marcus Y. Chin, Antoine Koehl, Michelle R. Arkin, Avner Schlessinger, Renata C. Gallagher, Yun S. Song, Russ B. Altman, Kathleen M. Giacomini
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 119, iss 46
Genetic variants in SLC22A5 , encoding the membrane carnitine transporter OCTN2, cause the rare metabolic disorder Carnitine Transporter Deficiency (CTD). CTD is potentially lethal but actionable if detected early, with confirmatory diagnosis involvi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c366924c8287c0c88448575f665b98d
https://escholarship.org/uc/item/3tq3c8f5
https://escholarship.org/uc/item/3tq3c8f5
Autor:
Julia E. H. Brown
Publikováno v:
Ethos. 50
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1be9eb4893fc1822390345ff7a81112c
https://doi.org/10.1111/etho.12359
https://doi.org/10.1111/etho.12359