Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Lauren Lichten"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101187- (2024)
Externí odkaz:
https://doaj.org/article/98241e250d9744f5b38f181dffc5dbee
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100334- (2023)
Externí odkaz:
https://doaj.org/article/c3a46515d7b547b2bd28b9184cfe6b71
Publikováno v:
Haemophilia. 29:513-520
Autor:
Aaliyah Heyward, Kelsi Hagerty, Lauren Lichten, Julie Howell, Ching Siong Tey, Kavita Dedhia, Dio Kavalieratos, Nandini Govil
Publikováno v:
Journal of Community Genetics.
Publikováno v:
Journal of Genetic Counseling.
Publikováno v:
Journal of Genetic Counseling. 31:803-814
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with usually typical cognition. The first disease-modifying therapy for SMA, nusinersen, was approved by the United States Food and D
Autor:
Aaliyah Heyward, Kavita Dedhia, Ching Siong Tey, Lauren Lichten, Julie Howell, Dio Kavalieratos, Kelsi Hagerty, Nandini Govil
Genetic testing has allowed otolaryngologists to diagnose 40-65% of pediatric sensorineural hearing loss (SNHL) patients with a genetic disorder. Previous research focused on the utility of genetic testing in the workup of pediatric SNHL and otolaryn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c6e9d5ae2f03f394ae00d1fa03b25c1
https://doi.org/10.21203/rs.3.rs-1824268/v1
https://doi.org/10.21203/rs.3.rs-1824268/v1
Autor:
Aarti Ramdaney, Lauren Lichten, Lauren Propst, Caitlin Mann, Gabriel A. Lazarin, Malorie Jones, Amy Taylor, Jennifer Malinowski
Publikováno v:
Journal of genetic counselingREFERENCES. 31(4)
The aim of carrier screening is to identify prospective parents at risk of having a pregnancy affected with an autosomal recessive or X-linked disorder. Though minimal guideline-based screening is available, expanded carrier screening (ECS) is quickl
Autor:
Joseph R. Biggio, Bryann Bromley, Lorraine Dugoff, P. Kaitlyn Edelson, Jessica L. Giordano, Anthony R. Gregg, Michael H. Guo, Stephanie Guseh, Susan Klugman, Jeffrey A. Kuller, Brynn Levy, Lauren Lichten, Tippi C. MacKenzie, Michael T. Mennuti, Quoc-Hung L. Nguyen, Mary E. Norton, Barbara M. O’Brien, Soha S. Patel, Malavika Prabhu, Sara Schonfeld Rabin-Havt, Aleksandar Rajkovic, Rebecca Reimers, Britton D. Rink, Melissa Stosic, Ignatia B. Van den Veyver, Ronald Wapner, Louise Wilkins-Haug, Russell G. Witt, Svetlana A. Yatsenko
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d32d45e4eacbce3b56e6992246b9ca68
https://doi.org/10.1016/b978-0-323-53094-1.01002-x
https://doi.org/10.1016/b978-0-323-53094-1.01002-x
Autor:
Lauren Lichten, Barbara M. O’Brien
Chromosome abnormalities, such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities, are quite common, occurring in just under 1% of all live births. Although these conditions are associated with advanced maternal age, age alone is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cde9c4ea302f37236e86295f4facd0f
https://doi.org/10.1016/b978-0-323-53094-1.00008-4
https://doi.org/10.1016/b978-0-323-53094-1.00008-4