Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Megan Yabumoto"'
Autor:
Anoushka Rao, Megan Yabumoto, Eliana Ward-Lev, Emily G. Miller, Hetanshi Naik, Meghan C. Halley
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101889- (2024)
Purpose: Rare diseases substantially contribute to population morbidity and mortality. Understanding rare disease health-related quality of life (HRQL) is essential for evaluating platform-based interventions that aim to tackle multiple rare diseases
Externí odkaz:
https://doaj.org/article/0535695526684fdea1a8e017bc7d79cc
Publikováno v:
Journal of Medical Internet Research, Vol 24, Iss 12, p e42084 (2022)
BackgroundSocial media provides a potential avenue for genetic counselors to address gaps in access to reliable genetics information for rare disease communities. However, only limited research has examined patient and family attitudes toward engagin
Externí odkaz:
https://doaj.org/article/f1071f91f2814591aee3d08aa2903467
Autor:
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel
Externí odkaz:
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
BACKGROUND Social media provides a potential avenue for genetic counselors (GCs) to address gaps in access to reliable genetics information for rare disease communities, but little research has examined patient and family attitudes toward online enga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6dc4686d4344e6b6220dd6c45d107345
https://doi.org/10.2196/preprints.42084
https://doi.org/10.2196/preprints.42084
Autor:
Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, Anne H. O’Donnell-Luria
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3049de7f8ff607c1be67244b27b4cfb4
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd