Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Andrew Schmanski"'
Autor:
Rachel Weber, Andrew Schmanski, Marilyn E. Coors, Kristy Crooks, Jaron Arbet, Kathleen C. Barnes, Stephen J. Wicks, Matthew R.G. Taylor, Emily R. Roberts
Publikováno v:
Journal of Genetic Counseling. 30:257-267
The number of institutional and governmental biobanks and the target enrollment sizes of modern biobanks are increasing, affording more opportunities for the public to participate in biobanking efforts. In parallel with these expansions are pressures
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a480ef068bba1285c6aa3e3d01cbb93
https://doi.org/10.1002/jgc4.1316
https://doi.org/10.1002/jgc4.1316
Autor:
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre
Publikováno v:
Journal of Medical Genetics, 59(11), 1058-1068. BMJ PUBLISHING GROUP
J Med Genet
J Med Genet
BackgroundA neurodevelopmental syndrome was recently reported in four patients withSOX4heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcc7109453ac5c5dd3b5ae4e14c6a32
http://hdl.handle.net/1887/3563135
http://hdl.handle.net/1887/3563135
