The Hummingbird Vol. 8 No. 1

Publicado 2021

Missense variant contribution to USP9X-female syndrome

por Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz
Publicado 2020

Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure

por Pablo Cordero, Victoria N. Parikh, Elizabeth T. Chin, Ayca Erbilgin, Michael J. Gloudemans, Ching Shang, Yong Huang, Alex C. Chang, Kevin S. Smith, Frederick Dewey, Kathia Zaleta, Michael Morley, Jeff Brandimarto, Nicole Glazer, Daryl Waggott, Aleksandra Pavlovic, Mingming Zhao, Christine S. Moravec, W. H. Wilson Tang, Jamie Skreen, Christine Malloy, Sridhar Hannenhalli, Hongzhe Li, Scott Ritter, Mingyao Li, Daniel Bernstein, Andrew Connolly, Hakon Hakonarson, Aldons J. Lusis, Kenneth B. Margulies, Anna A. Depaoli-Roach, Stephen B. Montgomery, Matthew T. Wheeler, Thomas Cappola, Euan A. Ashley
Publicado 2019

CYP11B1 variants influence skeletal maturation via alternative splicing

por Olja Grgic, Matthew R. Gazzara, Alessandra Chesi, Carolina Medina-Gomez, Diana L. Cousminer, Jonathan A. Mitchell, Vid Prijatelj, Jard de Vries, Enisa Shevroja, Shana E. McCormack, Heidi J. Kalkwarf, Joan M. Lappe, Vicente Gilsanz, Sharon E. Oberfield, John A. Shepherd, Andrea Kelly, Soroosh Mahboubi, Fabio R. Faucz, Richard A. Feelders, Frank H. de Jong, Andre G. Uitterlinden, Jenny A. Visser, Louis R. Ghanem, Eppo B. Wolvius, Leo J. Hofland, Constantine A. Stratakis, Babette S. Zemel, Yoseph Barash, Struan F. A. Grant, Fernando Rivadeneira
Publicado 2021

Risk factors and outcomes for late presentation for HIV-positive persons in Europe: results from the Collaboration of Observational HIV Epidemiological Research Europe Study (COHER...

por Amanda Mocroft, Jens D Lundgren, Miriam Lewis Sabin, Antonella d'Arminio Monforte, Norbert Brockmeyer, Jordi Casabona, Antonella Castagna, Dominique Costagliola, Francois Dabis, Stéphane De Wit, Gerd Fätkenheuer, Hansjakob Furrer, Anne M Johnson, Marios K Lazanas, Catherine Leport, Santiago Moreno, Niels Obel, Frank A Post, Joanne Reekie, Peter Reiss, Caroline Sabin, Adriane Skaletz-Rorowski, Ignacio Suarez-Lozano, Carlo Torti, Josiane Warszawski, Robert Zangerle, Céline Fabre-Colin, Jesper Kjaer, Genevieve Chene, Jesper Grarup, Ole Kirk, Collaboration of Observational HIV Epidemiological Research Europe (COHERE) study in EuroCoord
Publicado 2013