Որոնման արդյունքները - James T. Lu
- Ցուցադրվում են 1 - 20 արդյունքները 28
- Գնացեք Հաջորդ էջ
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The<i>KAT6B</i>-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms Philippe M. Campeau, James T. Lu, Brian C. Dawson, Ivo F.A.C. Fokkema, Stephen P. Robertson, Richard A. Gibbs, Brendan Lee
Հրապարակվել է 2012Revisão -
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A bifunctional nociceptin and mu opioid receptor agonist is analgesic without opioid side effects in nonhuman primates Huiping Ding, Norikazu Kiguchi, Dennis Yasuda, Pankaj Daga, Willma E. Polgar, James J. Lu, Paul W. Czoty, Shiroh Kishioka, Nurulain T. Zaveri, Mei‐Chuan Ko
Հրապարակվել է 2018Artigo -
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Saliva is less sensitive than nasopharyngeal swabs for COVID-19 detection in the community setting David G. Becker, Efren Sandoval, Aakash Amin, Peter De Hoff, Amberly Diets, Nicole Leonetti, Yan Wei Lim, Christie Elliott, Louise C. Laurent, Joseph J. Grzymski, James T. Lu
Հրապարակվել է 2020Pré-impressão -
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Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis Abbhirami Rajagopal, Débora Braslavsky, James T. Lu, Soledad Kleppe, Florencia Clément, Hamilton Cassinelli, David S. Liu, José Miguel Liern, Graciela Vallejo, Ignacio Bergadá, Richard A. Gibbs, Philippe M. Campeau, Brendan Lee
Հրապարակվել է 2014Artigo -
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Centrosome Amplification Is Sufficient to Promote Spontaneous Tumorigenesis in Mammals Michelle S. Levine, Björn Bakker, Bram Boeckx, Julia Moyett, James T. Lu, Benjamin Vitre, Diana C.J. Spierings, Peter M. Lansdorp, Don W. Cleveland, Diether Lambrechts, Floris Foijer, Andrew J. Holland
Հրապարակվել է 2017Artigo -
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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis Philippe M. Campeau, James T. Lu, Gautam Sule, Ming‐Ming Jiang, Yun‐Ui Bae, Simran Madan, Wolfgang Högler, N. Shaw, Steven Mumm, Richard A. Gibbs, Michael P. Whyte, Brendan H. Lee
Հրապարակվել է 2012Artigo -
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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts Elizabeth T. Cirulli, Simon White, Robert W. Read, Gai Elhanan, William J. Metcalf, Francisco Tanudjaja, Donna M. Fath, Efren Sandoval, Magnus Isaksson, Karen Schlauch, Joseph J. Grzymski, James T. Lu, Nicole L. Washington
Հրապարակվել է 2020Revisão -
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A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans Alexandre Bolze, Fernando L. Méndez, Simon White, Francisco Tanudjaja, Magnus Isaksson, Ruomu Jiang, Andrew Dei Rossi, Elizabeth T. Cirulli, Misha Rashkin, William J. Metcalf, Joseph J. Grzymski, William Lee, James T. Lu, Nicole L. Washington
Հրապարակվել է 2019Pré-impressão -
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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas‐Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan Lee
Հրապարակվել է 2017Artigo -
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Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an <i>IFITM</i> <i>5</i> Mutation Jay R. Shapiro, Caressa Lietman, Monica Grover, James T. Lu, Sandesh C.S. Nagamani, Brian C. Dawson, Dustin Baldridge, Matthew N. Bainbridge, D.H. Cohn, Maria Blazo, Timothy T. Roberts, Feng-Shu Brennen, Yimei Wu, Richard A. Gibbs, Pamela Melvin, Philippe M. Campeau, Brendan Lee
Հրապարակվել է 2013Artigo -
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Next-generation sequencing for disorders of low and high bone mineral density Gautam Sule, Philippe M. Campeau, V. W. Zhang, Sandesh C.S. Nagamani, Brian C. Dawson, Monica Grover, Carlos A. Bacino, V. Reid Sutton, Nicola Brunetti‐Pierri, James T. Lu, Edmond G. Lemire, Richard A. Gibbs, Daniel H. Cohn, Hong Cui, L. Wong, Brendan H. Lee
Հրապարակվել է 2013Artigo -
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Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay C. Burrage, Peter D. Turnpenny, Jorge Román Corona‐Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee
Հրապարակվել է 2013Artigo -
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SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads Alexandre Bolze, Elizabeth T. Cirulli, Shishi Luo, Simon White, Dana Wyman, Andrew Dei Rossi, Henrique Machado, Tyler Cassens, Sharoni Jacobs, Kelly M. Schiabor Barrett, Kevin Tsan, Jason Nguyen, Jimmy M. Ramirez, Efren Sandoval, Xueqing Wang, David Wong, David G. Becker, Marc Laurent, James T. Lu, Magnus Isaksson, Nicole L. Washington, William Lee
Հրապարակվել է 2021Pré-impressão -
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SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads Alexandre Bolze, Shishi Luo, Simon White, Elizabeth T. Cirulli, Dana Wyman, Andrew Dei Rossi, Henrique Machado, Tyler Cassens, Sharoni Jacobs, Kelly M. Schiabor Barrett, Francisco Tanudjaja, Kevin Tsan, Jason Nguyen, Jimmy M. Ramirez, Efren Sandoval, Xueqing Wang, David Wong, David G. Becker, Marc Laurent, James T. Lu, Magnus Isaksson, Nicole L. Washington, William Lee
Հրապարակվել է 2022Artigo -
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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome Philippe M. Campeau, Jaeseung Kim, James T. Lu, Jeremy Schwartzentruber, Omar Abdul‐Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier‐Daire, Matthew N. Bainbridge, Xiang‐Jiao Yang, Marie‐Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, Brendan Lee
Հրապարակվել է 2012Artigo -
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<i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau, Riku Kiviranta, Kati Tarkkonen, Monica Grover, James T. Lu, Minna Pekkinen, Maija Wessman, Terhi J. Heino, Vappu Nieminen-Pihala, Mira Aronen, Tero Laine, Heikki Kröger, William G. Cole, Anna‐Elina Lehesjoki, Lisette Nevarez, Deborah Krakow, Cynthia J. Curry, Daniel H. Cohn, Richard A. Gibbs, Brendan Lee, Outi Mäkitie
Հրապարակվել է 2013Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Genetics
Medicine
Gene
Internal medicine
Disease
Mutation
Coronavirus disease 2019 (COVID-19)
Infectious disease (medical specialty)
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
Virology
Exome sequencing
Phenotype
Population
Astronomy
Delta
Environmental health
Genome
Genotype
Pathology
Physics
Cell biology
Computational biology
Demography
Exome
Missense mutation
Sociology
Virus
2019-20 coronavirus outbreak
Anatomy