Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rachel Franciskovich"'
Autor:
Emily Waskow, Elizabeth Mizerik, Nichole Owen, Matthew Hoi Kin Chau, Rachel Franciskovich, Kevin Glinton, Keren Machol
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101275- (2024)
Externí odkaz:
https://doaj.org/article/041eafb9fda04afb925eb309f22aa7a6
Autor:
Haley Streff, Crescenda L. Uhles, Heather Fisher, Rachel Franciskovich, Rebecca O. Littlejohn, Amanda Gerard, Julianna Hudnall, Hadley Stevens Smith
Publikováno v:
Genetics in Medicine. 25:100350
Little is known about how Medicaid coverage policies affect access to genetic tests for pediatric patients. Building upon and extending a previous analysis of prior authorization requests (PARs), we describe expected coverage of genetic tests submitt
Autor:
Pengfei Liu, Ian M. Campbell, Gladys Zapata, Rachel Franciskovich, Michelle E Walters, Bret L. Bostwick, Patricia P. Hernandez, Mahshid S. Azamian, Yves Lacassie, Seema R. Lalani
Publikováno v:
American Journal of Medical Genetics Part A. 185:916-922
ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bone
Autor:
Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley McConkey, Mouna Barat-Houari, Kameryn M. Butler, Christine Coubes, Jennifer A. Lee, Gwenael Le Guyader, Raymond J. Louie, Wesley G. Patterson, Matthew L. Tedder, Mads Bak, Trine Bjørg Hammer, William Craigen, Florence Démurger, Christèle Dubourg, Mélanie Fradin, Rachel Franciskovich, Eirik Frengen, Jennifer Friedman, Nathalie Ruiz Palares, Maria Iascone, Doriana Misceo, Pauline Monin, Sylvie Odent, Christophe Philippe, Flavien Rouxel, Veronica Saletti, Petter Strømme, Perla Cassayre Thulin, Bekim Sadikovic, David Genevieve
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (4), pp.905-914. ⟨10.1016/j.gim.2021.12.003⟩
Genetics in Medicine, 2022, 24 (4), pp.905-914. ⟨10.1016/j.gim.2021.12.003⟩
International audience; PURPOSE: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotyp
Autor:
Haley Streff, Katie Chan, Amanda Gerard, Farah Ladha, Pilar Magoulas, Arden Wheeler, Rachel Franciskovich
Publikováno v:
Genetics in Medicine. 24:S330
Autor:
Juanita Neira-Fresneda, Lorraine Potocki, Rachel Franciskovich, Claudia Soler-Alfonso, Bonnie McCann-Crosby, James R. Lupski
Publikováno v:
Am J Med Genet A
Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454a9078c58c0607f8c292654f516b92
https://europepmc.org/articles/PMC8445515/
https://europepmc.org/articles/PMC8445515/
Autor:
Bonnie, McCann-Crosby, Frank Xavier, Placencia, Oluyemisi, Adeyemi-Fowode, Jennifer, Dietrich, Rachel, Franciskovich, Sheila, Gunn, Marni, Axelrad, Duong, Tu, David, Mann, Lefkothea, Karaviti, Vernon Reid, Sutton
Publikováno v:
Pediatric endocrinology reviews : PER. 16(1)
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing