Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Anne Gold"'
Autor:
Marianne S. Karplus, Tun Jan Young, Sridhar Anandakrishnan, Jeremy N. Bassis, Elizabeth H. Case, Anna J. Crawford, Anne Gold, Leilani Henry, Jonathan Kingslake, Asmara A. Lehrmann, Patricia A. Montaño, Erin C. Pettit, Ted A. Scambos, Elizabeth M. Sheffield, Emma C. Smith, Margie Turrin, Julia S. Wellner
Publikováno v:
Annals of Glaciology, Vol 63, Pp 125-131 (2022)
To increase inclusivity, diversity, equity and accessibility in Antarctic science, we must build more positive and inclusive Antarctic field work environments. The International Thwaites Glacier Collaboration (ITGC) has engaged in efforts to contribu
Externí odkaz:
https://doaj.org/article/8d197e0d173149dfab16f8cf62a9feaf
Autor:
Lauren J. Massingham, Sabrina Nuñez, Jonathan A. Bernstein, David P. Gardner, Aditi Shah Parikh, Erin T. Strovel, Fabiola Quintero-Rivera, Hanna Anderson, Myla Ashfaq, Jonathan Bernstein, Leah Burke, Courtney Cross, Shweta Dhar, Kathryn Garber, David Gardner, June-Anne Gold, Alice Hudder, Katherine Hyland, Niels Larsen, Lauren Massingham, Aditi Parikh, Lynette Penney, Alisdair (Rod) Philp, Alice B. Popejoy, Andrew K. Sobering, Lois Starr, Erin Strovel, Helga V. Toriello, Tracey Weiler, Svetlana Yatsenko
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(10)
The field of genetics and genomics continues to expand at an unprecedented pace. As scientific knowledge is translated to clinical practice, genomic information is routinely being used in preventive, diagnostic, and therapeutic decision-making across
Autor:
Ranim Mahmoud, June-Anne Gold, Virginia Kimonis, Merlin G. Butler, Elizabeth Roof, Elisabeth M. Dykens, Pamela Flodman, Anna Leonenko, Daniel J. Driscoll, Jennifer L. Miller
Publikováno v:
Clin Genet
Prader-Willi syndrome (PWS) is a complex genetic disorder with three molecular classes but clinical ascertainment is based on distinctive features. The prevalence of dysmorphic features was studied in 355 PWS participants (61% deletion, 36% maternal
Autor:
Sarah Fortner, Cathryn Manduca, Hendratta Ali, Casey Morrisroe Saup, Samuel Cornelius Nyarko, Shannon Othus-Gault, Viranga Perera, Vincent C H Tong, Anne Gold, Tanya Furman, Leilani Arthurs, Bridget K. Mulvey, Kristen St. John, Joel Greene Singley, Elijah Thomas Johnson, Molly Witter, Rebecca L Batchelor, Deron T. Carter, M. Chantale Damas, Lynsey Lemay, Karen M. Layou, Russanne D Low, Hui-Hui Wang, Kai Olson-Sawyer, Amy Pallant, Katherine Ryker, Laura Lukes, Nicole D LaDue, Katrien van der Hoeven Kraft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af8db51d2d8c3a822e18088317a2f2be
https://doi.org/10.1002/essoar.10510740.1
https://doi.org/10.1002/essoar.10510740.1
Autor:
June-Anne Gold
Publikováno v:
Neonatology Today. 16:133-135
Autor:
Javeria Manazir, Kathryn Osann, Ranim Mahmoud, Suzanne B. Cassidy, June-Anne Gold, Virginia Kimonis, Jeannine Oldzej, Pamela Flodman
Publikováno v:
American Journal of Medical Genetics Part A. 182:169-175
Prader-Willi syndrome (PWS) affects 1/15,000-1/30,000 live births and is characterized by lack of expression of paternally inherited genes on 15q11.2-15q13 caused by paternal deletions, maternal uniparental disomy (UPD), or imprinting defects. Affect
Autor:
Jennifer Evans, Anne Gold
The reorganisation of the education system within Britain has vastly increased the managerial responsibilities of those working in schools, although the staff generally have received little management training. In this book, the various issues relate
Autor:
June-Anne Gold, Virginia Kimonis, Jennifer L. Miller, Merlin G. Butler, Elisabeth M. Dykens, Roy N. Tamura, Daniel J. Driscoll
Publikováno v:
American Journal of Medical Genetics. Part a
American journal of medical genetics. Part A, vol 179, iss 8
American journal of medical genetics. Part A, vol 179, iss 8
Prader‐Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11‐q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.
Autor:
Ranim Mahmoud, Heidi D. Swanson, Merlin G. Butler, Pamela Flodman, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Kathryn Osann, Elisabeth Dykens, Daniel J. Driscoll, Virginia Kimonis
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 9; Pages: 2572
Prader–Willi syndrome (PWS) is a complex genetic disorder with three genetic classes. Patients with PWS are characterized by severe hypotonia, developmental delay, behavioral problems, learning disabilities and morbid obesity in early childhood if
Autor:
Merlin G. Butler, Barbara McManus, Virginia Kimonis, Janalee Heinemann, June‐Anne Gold, Kathryn Osann, Jennifer Proffitt, David A. Stevenson
Publikováno v:
American Journal of Medical Genetics Part A. 179:196-205
Prader-Willi syndrome (PWS) is a multi-system disorder resulting from a lack of paternal gene expression in the 15q11.2-q13 region. Using databases compiled through response questionnaires completed by families known to the Prader-Willi Syndrome Asso