Результати пошуку - Timothy Fee

6: Exon-level copy-number variants: The penultimate frontier in copy-number analysis? за авторством Timothy Fee, Benjamin Hilton, Barbara DuPont

Отримати повний текст

P435: Diagnostic yield and copy number findings from 500 clinical genome sequencing cases за авторством Kameryn Butler, Benjamin Hilton, Timothy Fee, Barbara DuPont

Отримати повний текст

Nanofiber Alignment Regulates NIH3T3 Cell Orientation and Cytoskeletal Gene Expression on Electrospun PCL+Gelatin Nanofibers. за авторством Timothy Fee, Swetha Surianarayanan, Crawford Downs, Yong Zhou, Joel Berry

Отримати повний текст

P549: Analysis of challenging products of conception cases with optical genome mapping: A preliminary study за авторством Nikhil Sahajpal, Ashis Mondal, Harmanpreet Singh, Timothy Fee, Fatima Abidi, Benjamin Hilton, Ravindra Kolhe, Barbara DuPont

Отримати повний текст

P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey за авторством Jessica Cooley Coleman, Adithya Kandhadai, Christa Clinemyer, Timothy Fee, Benjamin Hilton, Barbara DuPont, Michael Lyons, Roger Stevenson, Michael Friez

Отримати повний текст

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders за авторством Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

Отримати повний текст