Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Campbell Brasington"'
Autor:
Tomi L. Toler, Susan Sparks, Jenifer Lavigne, Emily Davidson, Lauren Voelz, Brian G. Skotko, Alison Schwartz, Jordan Lyerly, Al Ozonoff, Priya S. Kishnani, Jose C. Florez, Blythe G. Crissman, Kara Stock-Guild, Angela Lombardo, Kathryn L. Berrier, Nicole Bäumer, Ibrahim Elsharkawi, Christianne Sharr, Sheila Cannon, Mary Ellen McDonough, Kishore Vellody, Campbell Brasington
Publikováno v:
American Journal of Medical Genetics Part A. 173:1539-1545
The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d712daf7f56f47d363cc78c90d8e30d5
https://doi.org/10.1002/ajmg.a.38219
https://doi.org/10.1002/ajmg.a.38219
Autor:
Tomi L. Toler, Kishore Vellody, Christianne Sharr, Blythe G. Crissman, Brian G. Skotko, Alison Schwartz, Priya S. Kishnani, Lauren Voelz, Nicole Bäumer, Emily Davidson, Mary Ellen McDonough, Jenifer Lavigne, Susan Sparks, Kara Stock-Guild, Kathryn L. Berrier, Sheila Cannon, Angela Lombardo, Ibrahim Elsharkawi, Al Ozonoff, Jose C. Florez, Campbell Brasington, Jordan Lyerly
Publikováno v:
American Journal of Medical Genetics Part A. 170:3098-3105
The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms of CD are most often reported to DS specialty providers at these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd6203204c31806ff3fe0331ec49445
https://doi.org/10.1002/ajmg.a.37879
https://doi.org/10.1002/ajmg.a.37879
Autor:
Jordan Lyerly, Brian G. Skotko, Blythe G. Crissman, Christianne Sharr, Kathryn L. Berrier, Sheila Cannon, Al Ozonoff, Priya S. Kishnani, Emily Davidson, Mary Ellen McDonough, Alison Schwartz, Tomi L. Toler, Kara Stock-Guild, Jenifer Lavigne, Jessica B. McCannon, Jose C. Florez, Nicole Bäumer, Lisa Albers Prock, Kishore Vellody, Susan Sparks, Campbell Brasington, Lauren Voelz, Angela Lombardo
Publikováno v:
American Journal of Medical Genetics Part A. 167:2520-2526
The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba1084b58116d1f31bebb8318bd20bdd
https://doi.org/10.1002/ajmg.a.37267
https://doi.org/10.1002/ajmg.a.37267
Autor:
Jenifer, Lavigne, Christianne, Sharr, Al, Ozonoff, Lisa Albers, Prock, Nicole, Baumer, Campbell, Brasington, Sheila, Cannon, Blythe, Crissman, Emily, Davidson, Jose C, Florez, Priya, Kishnani, Angela, Lombardo, Jordan, Lyerly, Jessica B, McCannon, Mary Ellen, McDonough, Alison, Schwartz, Kathryn L, Berrier, Susan, Sparks, Kara, Stock-Guild, Tomi L, Toler, Kishore, Vellody, Lauren, Voelz, Brian G, Skotko
Publikováno v:
American journal of medical genetics. Part A. (11)
The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f61c517b33c95cfe3f6856482679fcd
https://pubmed.ncbi.nlm.nih.gov/26249752
https://pubmed.ncbi.nlm.nih.gov/26249752
Autor:
Campbell Brasington
Publikováno v:
Journal of Genetic Counseling; Dec2007, Vol. 16 Issue 6, p731-734, 4p
Autor:
Alexander P.A. Stegmann, Tzipora C. Falik-Zaccai, Constance Smith-Hicks, Fernando Kok, Kenneth G. Miller, Constance T. R. M. Stumpel, Konrad Platzer, Maria Teresa Bonati, Laurie A. Demmer, Alexander Pepler, Luiza Ramos, Kaitlin M. Angione, Megan T. Cho, Candace Gamble, Petra Stöbe, Hailey Pinz, Campbell Brasington, Hanna Mandel, Carolyn Wilson, Deepali N. Shinde, Maria Iascone, Rami Abou Jamra, Thorsten Marquardt, Johannes R. Lemke, Heinrich Sticht, Sonal Mahida, Yorck Hellenbroich, Nataliya Di Donato, William Allen, Kirsty McWalter, Stacey L. Edwards, Bianca Panis
Publikováno v:
Web of Science
American Journal of Human Genetics, 104(2), 203-212. Cell Press
American Journal of Human Genetics, 104(2), 203-212. Cell Press
Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three of whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd27bfd250a24de4fe1d6e0758f8c56
https://publons.com/wos-op/publon/31183129/
https://publons.com/wos-op/publon/31183129/
