Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Barb DuPont"'
Autor:
Sujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, Lauren Cascio, Kelly Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara Sarasua, Katy Phelan, Cynthia Morton, Luigi Boccuto
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0253859 (2021)
Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic a
Externí odkaz:
https://doaj.org/article/f1e267b546f04ca790d99f80fd77785b
Autor:
Nikhil Sahajpal, Ashis Mondal, Sudha Ananth, Timothy Fee, Amanda Weissman, Giuseppe Tripodi, Barb DuPont, Lawrence Layman, Alex Hastie, Alka Chaubey, Ravindra Kolhe
Publikováno v:
Cancer Genetics. :17-18
Autor:
Nikhil Sahajpal, Ashis Mondal, Suzanne Hurley, Timothy Fee, Alex Hastie, Alka Chaubey, Barb DuPont, Fariborz Rashid-Kolvear, Ravindra Kolhe
Publikováno v:
Cancer Genetics. :5
Autor:
Curtis Rogers, Lavanya Jain, Katy Phelan, Rini Pauly, Kelly Jones, Lauren Cascio, Cinthya J. Zepeda-Mendoza, Barb DuPont, Sujata Srikanth, Luigi Boccuto, Sara M. Sarasua, Cynthia C. Morton
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0253859 (2021)
PLoS ONE
PLoS ONE
Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic a
Autor:
Giovanni Neri, Julianne S. Collins, Daniela Orteschi, Luigi Boccuto, Roger E. Stevenson, Alka Dwivedi, Maria Lauri, Danilo Tiziano, Sara M. Sarasua, Richard J. Schroer, Daniela Buccella, Fiorella Gurrieri, Cindy Skinner, Charles E. Schwartz, Marcella Zollino, Paola Visconti, Barb DuPont
Publikováno v:
European Journal of Human Genetics. 21:310-316
Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in