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Detection of nonneutral substitution rates on mammalian phylogenies
Pollard, Katherine S., Hubisz, Melissa J., Rosenbloom, Kate R., Siepel, Adam
Published in Genome research (01.01.2010)
Published in Genome research (01.01.2010)
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Journal Article
Novel Blood-based Transcriptional Biomarker Panels Predict the Late-Phase Asthmatic Response
Singh, Amrit, Shannon, Casey P., Kim, Young Woong, Yang, Chen Xi, Balshaw, Robert, Cohen Freue, Gabriela V., Gauvreau, Gail M., FitzGerald, J. Mark, Boulet, Louis-Philippe, O’Byrne, Paul M., Tebbutt, Scott J.
Published in American journal of respiratory and critical care medicine (15.02.2018)
Published in American journal of respiratory and critical care medicine (15.02.2018)
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Journal Article
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
Bradshaw, Gabrielle, Lualhati, Robbie R., Albury, Cassie L., Maksemous, Neven, Roos-Araujo, Deidre, Smith, Robert A., Benton, Miles C., Eccles, David A., Lea, Rod A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R.
Published in Frontiers in immunology (05.03.2018)
Published in Frontiers in immunology (05.03.2018)
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Journal Article
Abstract P367: Cross-Species Epigenomic Maps of Intergenic Loci for Hypertension and Blood Pressure
Tutaj, Monika, Lin, Chien-Wei, Ray, Atrayee, Yang, Chun, Stelloh, Cary, Liu, Pengyuan, Liu, Yong, Widlansky, Michael, Greene, Andrew, Geurts, Aron, Cowley, Allen, Liang, Mingyu, Rao, Sridhar, Kwitek, Anne
Published in Hypertension (Dallas, Tex. 1979) (01.09.2024)
Published in Hypertension (Dallas, Tex. 1979) (01.09.2024)
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Journal Article
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia
Metlapally, Ravikanth, Li, Yi-Ju, Tran-Viet, Khanh-Nhat, Bulusu, Anuradha, White, Tristan R, Ellis, Jaclyn, Kao, Daniel, Young, Terri L
Published in Molecular vision (04.03.2008)
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Published in Molecular vision (04.03.2008)
Journal Article
SU26 - A WHOLE GENOME SEQUENCING STUDY IDENTIFIES A RARE VARIANT IN ANK3 THAT MAY CONTRIBUTE TO BIPOLAR DISORDER
Biernacka, Joanna, Jenkins, Gregory, McDonnell, Shannon, Batzler, Anthony, Sicotte, Hugues, Fogarty, Zachary, Welkie, Benjamin, Baheti, Saurabh, Coombes, Brandon, McElroy, Susan, Frye, Mark
Published in European neuropsychopharmacology (2019)
Published in European neuropsychopharmacology (2019)
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Journal Article
The Complex Transcriptional Landscape of the Human Platelet
Bray, Paul F., McKenzie, Steven E., Edelstein, Leonard C., Nagalla, Srikanth, Delgrosso, Kathleen, Ertel, Adam, Kupper, Joan, Jing, Yi, Londin, Eric R., Loher, Phillipe, Chen, Huang-Wen, Fortina, Paolo M., Rigoutsos, Isidore
Published in Blood (16.11.2012)
Published in Blood (16.11.2012)
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Journal Article
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21
Kim, T B, Isaacson, B, Sivakumaran, T A, Starr, A, Keats, B J B, Lesperance, M M
Published in Journal of medical genetics (01.11.2004)
Published in Journal of medical genetics (01.11.2004)
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Journal Article
Neuroferritinopathy in a French family with late onset dominant dystonia
Chinnery, P F, Curtis, A R J, Fey, C, Coulthard, A, Crompton, D, Curtis, A, Lombés, A, Burn, J
Published in Journal of medical genetics (01.05.2003)
Published in Journal of medical genetics (01.05.2003)
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Journal Article
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Martin-Geary, Alexandra C., Blakes, Alexander J.M., Dawes, Ruebena, Findlay, Scott D., Lord, Jenny, Dong, Shan, Walker, Susan, Talbot-Martin, Jonathan, Wieder, Nechama, D’Souza, Elston N., Fernandes, Maria, Hilton, Sarah, Lahiri, Nayana, Campbell, Christopher, Jenkinson, Sarah, DeGoede, Christian G.E.L., Anderson, Emily R., Candler, Toby, Firth, Helen, Burge, Christopher B., Sanders, Stephan J., Ellingford, Jamie, Baralle, Diana, Banka, Siddharth, Whiffin, Nicola
Published in Genome medicine (14.04.2025)
Published in Genome medicine (14.04.2025)
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Journal Article
Association of VDR gene polymorphism with osteoporosis in patients with chronic obstructive pulmonary disease
Kao, LI, FENG, Kai, WANG, Ping, Rui-juan, WANG, Min-li, ZHU, HU, Mei, Yue-yue, LI, Jia-ting, REN, Xiao-hui, WANG, Si-yi, TANG, Xin-yue, LIU, DONG, Jin, Ya-ya QIN, Ru-yi, YAN, Shu-jun, SONG
Published in Jie fang jun yi xue za zhi (28.06.2019)
Published in Jie fang jun yi xue za zhi (28.06.2019)
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Journal Article
Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Cotton, Allison M., Chen, Chih-Yu, Lam, Lucia L., Wasserman, Wyeth W., Kobor, Michael S., Brown, Carolyn J.
Published in Human molecular genetics (01.03.2014)
Published in Human molecular genetics (01.03.2014)
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