Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Emily A. Garvey"'
Autor:
Casie A. Genetti, Ferne Pinard, Abhijit S. Rao, Emily A. Garvey, Stephen W. Scherer, Christopher A. Walsh, Dimitri J. Stavropoulos, Mehdi Zarrei, Adam W. Hansen, Eugene J. D'Angelo, Emma A. Deaso, Annmarie Caracansi, Jill A. Rosenfeld, Hesham M. Hamoda, Richard S. Smith, Mark P. Gorman, Alan H. Beggs, Jianqiao Li, Richard A. Gibbs, Devon Carroll, Catherine A. Brownstein, Joseph Gonzalez-Heydrich, Jennifer L. Howe, David C. Glahn, Margaret A. Hojlo, Lance H. Rodan, Pankaj B. Agrawal, Joshua J. Bowen, Kristin Cabral, Weimin Bi
Publikováno v:
Molecular Psychiatry
Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old boy, who at 14 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bcf84bab472f2ba360421b385f13d89
http://europepmc.org/articles/PMC8159744
http://europepmc.org/articles/PMC8159744
Autor:
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein
BACKGROUND 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::116adeaf50cffdad5006afba038fe842
https://doi.org/10.2196/preprints.21023
https://doi.org/10.2196/preprints.21023
Autor:
Kent Shefchek, Nickesha C. Anderson, Melissa Haendel, Casie A. Genetti, Heather Paterson, Kara Sewalk, Pankaj B. Agrawal, John S. Brownstein, Elizabeth D. Buttermore, Sampath Chennuri, Alan H. Beggs, Ingrid A. Holm, Emily Cohn, Joseph Gonzalez-Heydrich, Jianqiao Li, Margaret A. Hojlo, Catherine A. Brownstein, Nitin Gujral, Emily A. Garvey
Publikováno v:
Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)
Journal of Medical Internet Research
Journal of Medical Internet Research
Background 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4570bcadde40dae27b03a53c6b7e52ca
https://doi.org/10.2196/21023
https://doi.org/10.2196/21023
Autor:
Mark Gorman, Anthony Deo, Margaret A. Hojlo, Catherine A. Brownstein, Eugene J. D'Angelo, Alcy Torres, David C. Glahn, Devon Carroll, Joseph Gonzalez-Heydrich, Emily A. Garvey
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 58:S236
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9744a7dc7e72417d52c000d774260edc
https://doi.org/10.1016/j.jaac.2019.08.290
https://doi.org/10.1016/j.jaac.2019.08.290