Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Laura Fairbrother"'
Autor:
Alexandra Bateman, Françoise Le Deist, Eamonn Sheridan, Christine P. Diggle, Erika Ignatius, Jill A. Rosenfeld, Tuula Lönnqvist, Anik St-Denis, Laura Fairbrother, Elizabeth Berry-Kravis, Louise Hattingh, Clare V. Logan, Colin A. Johnson, Philippe M. Campeau, Norbert F. Ajeawung, Taroh Kinoshita, Jessica Tardif, Michael Scott Perry, Christopher Carroll, Christopher P. Bennett, Pirjo Isohanni, Sophie Ehresmann, Fan Xia, David A. Parry, Guoliang Chai, Yoshiko Murakami, Maha S. Zaki, Joseph G. Gleeson, Thi Tuyet Mai Nguyen, Tyler Reimschisel, Michael Parker, Justine Rousseau
Publikováno v:
The American Journal of Human Genetics. 101:856-865
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes
Autor:
Elly Brokamp, Ashley H. Shoemaker, Nathan C. Bingham, Laura Fairbrother, Ann O. Scheimann, Jennifer L. Miller, Althea Robinson Shelton, Jessica Duis, Parisa Salehi, Anna Childers, Pieter Joost van Wattum
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary appro
Autor:
James R. Lupski, Richard A. Gibbs, Zöe Powis, Jing Zhang, Donna M. Muzny, Jennifer E. Posey, Daniel K. Arrington, Jill A. Rosenfeld, Eric Boerwinkle, Janice Baker, Fan Xia, Melissa Hall, V. Reid Sutton, Zhiyv Niu, Nancy J. Mendelsohn, Richard E. Person, Apostolos Psychogios, Kati J. Mason, Lynda Pollack, Magdalena Walkiewicz, Sha Tang, Janson White, Christine M. Eng, Shalini N. Jhangiani, Christine R. Beck, Kelly D. Farwell, Tamar Harel, Arthur L. Beaudet, Yaping Yang, Laura Fairbrother, Klaas J. Wierenga
Publikováno v:
Genome Medicine
Background Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies. De no