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Adult
Diagnosis and treatment of levothyroxine pseudomalabsorption., Lips, D. J., van Reisen M. T., Voigt V., and Venekamp W. , The Netherlands journal of medicine, 2004 Apr, Volume 62, Issue 4, p.114-8, (2004) Abstract
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency., Zhang, Y., Dipple K. M., Vilain E., Huang B. L., Finlayson G., Therrell B. L., Worley K., Deininger P., and McCabe E. R. , Human mutation, 2000, Volume 15, Issue 4, p.316-23, (2000) Abstract
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25., Hasham, Sumera N., Willing Marcia C., Guo Dong-Chuan, Muilenburg Ann, He Rumin, Tran Van T., Scherer Steven E., Shete Sanjay S., and Milewicz Dianna M. , Circulation, 2003 Jul 1, Volume 107, Issue 25, p.3184-90, (2003) Abstract
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura., Lotta, Luca A., Wu Haifeng M., Mackie Ian J., Noris Marina, Veyradier Agnes, Scully Marie A., Remuzzi Giuseppe, Coppo Paul, Liesner Ri, Donadelli Roberta, et al. , Blood, 2012 Jul 12, Volume 120, Issue 2, p.440-8, (2012) Abstract
PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population., Li, Quan, Qu Hui-Qi, Rentfro Anne R., Grove Megan L., Mirza Shaper, Lu Yang, Hanis Craig L., Fallon Michael B., Boerwinkle Eric, Fisher-Hoch Susan P., et al. , Clinical and investigative medicine. Médecine clinique et experimentale, 2012, Volume 35, Issue 4, p.E237-45, (2012) Abstract
Genetic linkage and imprinting effects on body mass index in children and young adults., Gorlova, Olga Y., Amos Christopher I., Wang Nancy W., Shete Sanjay, Turner Stephen T., and Boerwinkle Eric , European journal of human genetics : EJHG, 2003 Jun, Volume 11, Issue 6, p.425-32, (2003) Abstract
Relationship of HIV testing and high-risk behaviors among clients in methadone maintenance treatment., Grella, C. E., Campos M., and Anglin M. D. , AIDS education and prevention : official publication of the International Society for AIDS Education, 1998 Oct, Volume 10, Issue 5, p.403-16, (1998) Abstract
Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia., Egan, Michael F., Straub Richard E., Goldberg Terry E., Yakub Imtiaz, Callicott Joseph H., Hariri Ahmad R., Mattay Venkata S., Bertolino Alessandro, Hyde Thomas M., Shannon-Weickert Cynthia, et al. , Proceedings of the National Academy of Sciences of the United States of America, 2004 Aug 24, Volume 101, Issue 34, p.12604-9, (2004) Abstract
Deep resequencing and association analysis of schizophrenia candidate genes., Crowley, J. J., Hilliard C. E., Kim Y., Morgan M. B., Lewis L. R., Muzny D. M., Hawes A. C., Sabo A., Wheeler D. A., Lieberman J. A., et al. , Molecular psychiatry, 2013 Feb, Volume 18, Issue 2, p.138-40, (2013)
Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer., Ikeda, Yuji, Oda Katsutoshi, Nakagawa Shunsuke, Murayama-Hosokawa Satsuki, Yamamoto Shogo, Ishikawa Shumpei, Wang Linghua, Takazawa Yutaka, Maeda Daichi, Wada-Hiraike Osamu, et al. , International journal of gynecological cancer : official journal of the International Gynecological Cancer Society, 2012 Jun, Volume 22, Issue 5, p.725-31, (2012) Abstract
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy., Fu, Y. H., Friedman D. L., Richards S., Pearlman J. A., Gibbs R. A., Pizzuti A., Ashizawa T., Perryman M. B., Scarlato G., and Fenwick R. G. , Science (New York, N.Y.), 1993 Apr 9, Volume 260, Issue 5105, p.235-8, (1993) Abstract
Interaction of folate intake and the paraoxonase Q192R polymorphism with risk of incident coronary heart disease and ischemic stroke: the atherosclerosis risk in communities study., Luu, Hung N., Kingah Pascal L., North Kari, Boerwinkle Eric, and Volcik Kelly A. , Annals of epidemiology, 2011 Nov, Volume 21, Issue 11, p.815-23, (2011) Abstract
An overview of industrial accidents with particular reference to facial trauma., Shalhoub, S. Y. , Australian dental journal, 1991 Dec, Volume 36, Issue 6, p.445-50, (1991) Abstract
Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies., Nettleton, Jennifer A., McKeown Nicola M., Kanoni Stavroula, Lemaitre Rozenn N., Hivert Marie-France, Ngwa Julius, van Rooij Frank J. A., Sonestedt Emily, Wojczynski Mary K., Ye Zheng, et al. , Diabetes care, 2010 Dec, Volume 33, Issue 12, p.2684-91, (2010) Abstract
Persistent human herpesvirus-6 infection in patients with an inherited form of the virus., Pantry, Shara N., Medveczky Maria M., Arbuckle Jesse H., Luka Janos, Montoya Jose G., Hu Jianhong, Renne Rolf, Peterson Daniel, Pritchett Joshua C., Ablashi Dharam V., et al. , Journal of medical virology, 2013 Nov, Volume 85, Issue 11, p.1940-6, (2013) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria., Murdock, David R., Clark Gary D., Bainbridge Matthew N., Newsham Irene, Wu Yuan-Qing, Muzny Donna M., Cheung Sau Wai, Gibbs Richard A., and Ramocki Melissa B. , American journal of medical genetics. Part A, 2011 Sep, Volume 155A, Issue 9, p.2071-7, (2011) Abstract
NR2F1 mutations cause optic atrophy with intellectual disability., Bosch, Daniëlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.303-9, (2014) Abstract
Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension., Morrison, Alanna C., Brown Andrew, Kardia Sharon L. R., Turner Stephen T., and Boerwinkle Eric , Stroke; a journal of cerebral circulation, 2003 May, Volume 34, Issue 5, p.1170-5, (2003) Abstract
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study., Klos, Kathy L. E., Boerwinkle Eric, Ferrell Robert E., Turner Stephen T., and Morrison Alanna C. , Journal of lipid research, 2008 Aug, Volume 49, Issue 8, p.1701-6, (2008) Abstract
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy., Lupski, James R., Reid Jeffrey G., Gonzaga-Jauregui Claudia, Rio Deiros David, Chen David C. Y., Nazareth Lynne, Bainbridge Matthew, Dinh Huyen, Jing Chyn, Wheeler David A., et al. , The New England journal of medicine, 2010 Apr 1, Volume 362, Issue 13, p.1181-91, (2010) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease., Guo, Dong-Chuan, Papke Christina L., Tran-Fadulu Van, Regalado Ellen S., Avidan Nili, Johnson Ralph Jay, Kim Dong H., Pannu Hariyadarshi, Willing Marcia C., Sparks Elizabeth, et al. , American journal of human genetics, 2009 May, Volume 84, Issue 5, p.617-27, (2009) Abstract
Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts., Burger, H., Weiser B., Flaherty K., Gulla J., Nguyen P. N., and Gibbs R. A. , Proceedings of the National Academy of Sciences of the United States of America, 1991 Dec 15, Volume 88, Issue 24, p.11236-40, (1991) Abstract
Polymorphism of the soluble epoxide hydrolase is associated with coronary artery calcification in African-American subjects: The Coronary Artery Risk Development in Young Adults (CARDIA) study., Fornage, Myriam, Boerwinkle Eric, Doris Peter A., Jacobs David, Liu Kiang, and Wong Nathan D. , Circulation, 2004 Jan 27, Volume 109, Issue 3, p.335-9, (2004) Abstract


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