Zobrazeno 1 - 10
of 453
pro vyhledávání: '"Robin A. Clark"'
Autor:
Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1276-1288 (2022)
Abstract Objective This study delineates the clinical and molecular spectrum of ANKLE2‐related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus. Methods We identified 12 individuals with MIC
Externí odkaz:
https://doaj.org/article/bf3759a0566147bbb6315854302293ea
Autor:
Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H. Wojcik, Jill A. Madden, Chrystalle Katte Carreon, Robin D. Clark, Annie Stenftenagel, Kamal Chikalard, Virginia Kimonis, William Brucker, Carolina Alves, Karen W. Gripp
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100834- (2023)
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings,
Externí odkaz:
https://doaj.org/article/8a300f2f361145159f72c50780ea5c75
Autor:
Robin Michigiizhigookwe Clark, Nicholas J Reo, Joshua E Hudson-Niigaanwewiidan, Laura E Waawaashkeshikwe Collins-Downwind, Waabshkaa Asinekwe (Colleen Medicine)
Publikováno v:
Ecology and Society, Vol 27, Iss 4, p 29 (2022)
Giizhik (gee-zhick; Northern white cedar; Thuja occidentalis ) maintains essential roles in Anishinaabe teachings, ceremony, and lifeways. Anishinaabeg at Bahweting and Gnoozhekaaning have adaptively gathered Giizhik through millennia of change. Over
Externí odkaz:
https://doaj.org/article/ced2e88a15d746f981ecb088b2ba3326
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
Autor:
Jacklyn Omorodion, Leah Dowsett, Robin D. Clark, Jamie Fraser, Aya Abu‐El‐Haija, Alanna Strong, Monica H. Wojcik, Allison S. Bryant, Nina B. Gold
Publikováno v:
Am J Med Genet A
As more therapeutics for genetic conditions become available, the need for timely and equitable genetic diagnosis has become urgent. Using clinical cases, we consider the health system-, provider-, and patient-level factors that contribute to the del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f016b51715882461bf7edb52aeac86
https://doi.org/10.1002/ajmg.a.62626
https://doi.org/10.1002/ajmg.a.62626
Autor:
Subhadra Ramanathan, Robin Dawn Clark
Publikováno v:
Neonatology Today. 16:128-133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::935d4a9fd9f249b2c985bcac3383fc17
https://doi.org/10.51362/neonatology.today/20211612128133
https://doi.org/10.51362/neonatology.today/20211612128133
Autor:
Robin D Clark
Publikováno v:
Neonatology Today. :133-136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6256c0c4492baccc7bb4bc5ac09199b1
https://doi.org/10.51362/neonatology.today/2021111611133136
https://doi.org/10.51362/neonatology.today/2021111611133136
Publikováno v:
Neonatology Today. :134-137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e63da7f99f23c72e0bcad27c34201e90
https://doi.org/10.51362/neonatology.today/2021101610134137
https://doi.org/10.51362/neonatology.today/2021101610134137
Publikováno v:
Advances in Atmospheric Sciences
Highly unusual amounts of rainfall were seen in the 2020 summer in many parts of China, Japan, and South Korea. At the intercontinental scale, case studies have attributed this exceptional event to a displacement of the climatological western North P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e453fc84b687ed538be37e7f811aa1
https://doi.org/10.1007/s00376-021-1086-y
https://doi.org/10.1007/s00376-021-1086-y
Autor:
Robin D. Clark, Subhadra Ramanathan
Publikováno v:
Neonatology Today. 16:118-121
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bd0bb07c174979ef11e268d29998aab
https://doi.org/10.51362/neonatology.today/20218168118121
https://doi.org/10.51362/neonatology.today/20218168118121