Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Rebecca, Ganetzky"'
Autor:
Anne Lawrence, Olivier Fortin, Kelsey Christoffel, Jason Schroeder, Abdullah Shoaib, Charu Venkatesan, Kate Cilli, Cesar Alves, Rebecca Ganetzky, Jamie Fraser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101697- (2024)
Externí odkaz:
https://doaj.org/article/ec7c1a6b39ff4fd182f251a281800fa6
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101784- (2024)
Externí odkaz:
https://doaj.org/article/6100e4023f68484a8fc18e232ba108f7
Autor:
Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Katherine Lord, Diva D. De Leon, Nadia Merchant, Rebecca Ganetzky
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes. We discuss two cases at separate institutions in which clinical management was fundam
Externí odkaz:
https://doaj.org/article/0327b11fedfc4e6d915f002fc3f7ef2e
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Reproductive planning is an emerging concern for women with inherited metabolic disease (IMD). Anticipatory guidance on contraception is necessary to prevent unintended pregnancies in this population. Few resources exist to aid in
Externí odkaz:
https://doaj.org/article/8c133e3e6a3a45ccba4330df7b2ca8c2
Autor:
Jessica Priestley, Ian Campbell, Paula Roig Opio, Rebecca Ganetzky, Francis Jeshira Reynoso Santos, George Dalembert
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100437- (2023)
Externí odkaz:
https://doaj.org/article/cfc88d9138c944e6b7c02ec845de6556
Autor:
Nidhi Shah, Nina Gold, Sophia Adelson, Shardae Williams, Sarah Bick, Jessica Gold, Alanna Strong, Rebecca Ganetzky, Amy Roberts, Melissa Walker, Alexander Holtz, Vijay Sankaran, Ottavia Delmonte, Weizhen Tan, Ingrid Holm, Jay Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey Wiggs, Robert Green
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100444- (2023)
Externí odkaz:
https://doaj.org/article/4b3b938755e84ed3a7cd8a08fa997a36
Publikováno v:
American Journal of Medical Genetics Part A. 188:3312-3317
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c227ce7e40750a0828e5419941a13572
https://doi.org/10.1002/ajmg.a.62956
https://doi.org/10.1002/ajmg.a.62956
Autor:
Donna DiVito, Amanda Wellik, Jessica Burfield, James Peterson, Jean Flickinger, Alyssa Tindall, Kimberly Albanowski, Shailee Vishnubhatt, Laura MacMullen, Isaac Martin, Colleen Muraresku, Elizabeth McCormick, George Ibrahim-Sankoh, Shana McCormack, Amy Goldstein, Rebecca Ganetzky, Marc Yudkoff, Rui Xiao, Marni J. Falk, Maria Mascarenhas, Zarazuela Zolkipli-Cunningham
We sought to prospectively characterize the nutritional status of adults ≥ 19 years (n=22, 27% males) and children (n=38, 61% male) with genetically-confirmed primary mitochondrial disease (PMD) to guide development of precision nutritional support
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0173c631fb7c9d96b4e745092e724997
https://doi.org/10.21203/rs.3.rs-2666831/v1
https://doi.org/10.21203/rs.3.rs-2666831/v1
Autor:
Nina B. Gold, Sophia M. Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick, Jessica I. Gold, Alanna Strong, Rebecca Ganetzky, Amy E. Roberts, Melissa Walker, Alexander M. Holtz, Vijay G. Sankaran, Ottavia Delmonte, Weizhen Tan, Ingrid A. Holm, Jay R. Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey Wiggs, Robert C. Green
Publikováno v:
JAMA Network Open. 6:e2312231
ImportanceNewborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea1a001b5f3192f4420a9ebf436af2ed
https://doi.org/10.1001/jamanetworkopen.2023.12231
https://doi.org/10.1001/jamanetworkopen.2023.12231
Autor:
Katherine M. Szigety, Terrence B. Crowley, Kimberly B. Gaiser, Erin Y. Chen, Jessica R.C. Priestley, Lydia S. Williams, Sneha A. Rangu, Christina M. Wright, Priyanka Adusumalli, Rebecca C. Ahrens-Nicklas, Brandon Calderon, Sanmati R. Cuddapah, Andrew Edmondson, Can Ficicioglu, Rebecca Ganetzky, Jennifer M. Kalish, Ian D. Krantz, Donna M. McDonald-McGinn, Livija Medne, Colleen Muraresku, Louise C. Pyle, Elaine H. Zackai, Ian M. Campbell, Sarah E. Sheppard
Publikováno v:
Pediatrics
BACKGROUND AND OBJECTIVES Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived importance of the dysmorphology phy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6030b04c1f9177c6330ada1ca62678
https://doi.org/10.1542/peds.2021-054520
https://doi.org/10.1542/peds.2021-054520