Skip to Content


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
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
Long HIV-1 incubation periods and dynamics of transmission within a family., Burger, H., Belman A. L., Grimson R., Kaell A., Flaherty K., Gulla J., Gibbs R. A., Nguyun P. N., and Weiser B. , Lancet, 1990 Jul 21, Volume 336, Issue 8708, p.134-6, (1990) Abstract
Parental history of stroke and myocardial infarction predicts coronary artery calcification: The Coronary Artery Risk Development in Young Adults (CARDIA) study., Fornage, Myriam, Lopez David S., Roseman Jeffrey M., Siscovick David S., Wong Nathan D., and Boerwinkle Eric , European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology, 2004 Oct, Volume 11, Issue 5, p.421-6, (2004) Abstract
The genetic basis of DOORS syndrome: an exome-sequencing study., Campeau, Philippe M., Kasperaviciute Dalia, Lu James T., Burrage Lindsay C., Kim Choel, Hori Mutsuki, Powell Berkley R., Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, et al. , Lancet neurology, 2014 Jan, Volume 13, Issue 1, p.44-58, (2014) 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
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
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype., Perrault, Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, et al. , PloS one, 2013, Volume 8, Issue 1, p.e51622, (2013) Abstract
Whole-genome sequencing for optimized patient management., Bainbridge, Matthew N., Wiszniewski Wojciech, Murdock David R., Friedman Jennifer, Gonzaga-Jauregui Claudia, Newsham Irene, Reid Jeffrey G., Fink John K., Morgan Margaret B., Gingras Marie-Claude, et al. , Science translational medicine, 2011 Jun 15, Volume 3, Issue 87, p.87re3, (2011) Abstract
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa., Fu, Qing, Wang Feng, Wang Hui, Xu Fei, Zaneveld Jacques E., Ren Huanan, Keser Vafa, Lopez Irma, Tuan Han-Fang, Salvo Jason S., et al. , Investigative ophthalmology & visual science, 2013 Jun, Volume 54, Issue 6, p.4158-66, (2013) Abstract
Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study., Hallman, Michael D., Srinivasan Sathanur R., Chen Wei, Boerwinkle Eric, and Berenson Gerald S. , Metabolism: clinical and experimental, 2006 Dec, Volume 55, Issue 12, p.1574-81, (2006) Abstract
Adolescent Health Services
Collaborative social and medical service application., Petermann, C. A., Buffone G. J., Bobroff R. B., Moore D. M., Dargahi R., Moreau D. R., Gilson H. S., Li Y., Fowler J., and Beck J. R. , Medinfo. MEDINFO, 1995, Volume 8 Pt 2, p.1671, (1995) Abstract
Collaborative Social and Medical Service System., Petermann, C. A., Bobroff R. B., Moore D. M., Gilson H. S., Li Y., Dargahi R., Classen D. W., Fowler J., Moreau D. R., and Beck J. R. , Proceedings / the ... Annual Symposium on Computer Application [sic] in Medical Care. Symposium on Computer Applications in Medical Care, 1994, p.614-8, (1994) Abstract
Adrenal Cortex
Zebrafish dax1 is required for development of the interrenal organ, the adrenal cortex equivalent., Zhao, Y., Yang Z., Phelan J. K., Wheeler D. A., Lin S., and McCabe E. R. B. , Molecular endocrinology (Baltimore, Md.), 2006 Nov, Volume 20, Issue 11, p.2630-40, (2006) Abstract
Adrenal Insufficiency
Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21., Worley, K. C., Ellison K. A., Zhang Y. H., Wang D. F., Mason J., Roth E. J., Adams V., Fogt D. D., Zhu X. M., and Towbin J. A. , Genomics, 1993 May, Volume 16, Issue 2, p.407-16, (1993) Abstract
Adrenocorticotropic Hormone
[Results of treatment of flexion spasms in children]., Popielarska, A., Gregorczuk J., Suffczyńska-Kotowska M., and Mazurowa M. , Neurologia i neurochirurgia polska, 1971, Volume 5, Issue 3, p.387-91, (1971)
Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection., Yakub, Imtiaz, Lillibridge Kristy M., Moran Ana, Gonzalez Omar Y., Belmont John, Gibbs Richard A., and Tweardy David J. , The Journal of infectious diseases, 2005 Nov 15, Volume 192, Issue 10, p.1741-8, (2005) 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
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency., Chang, Yuh Terng, Sharma Radhakant, Marsh Lawrence J., McPherson John D., Bedell Joey A., Knust Andreas, Bräutigam Christa, Hoffmann Georg F., and Hyland Keith , Annals of neurology, 2004 Mar, Volume 55, Issue 3, p.435-8, (2004) Abstract
Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium., Shete, Sanjay, Lau Ching C., Houlston Richard S., Claus Elizabeth B., Barnholtz-Sloan Jill, Lai Rose, Il'yasova Dora, Schildkraut Joellen, Sadetzki Siegal, Johansen Christoffer, et al. , Cancer research, 2011 Dec 15, Volume 71, Issue 24, p.7568-75, (2011) Abstract
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
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections., Kuang, Shao-Qing, Guo Dong-Chuan, Prakash Siddharth K., McDonald Merry-Lynn N., Johnson Ralph J., Wang Min, Regalado Ellen S., Russell Ludivine, Cao Jiu-Mei, Kwartler Callie, et al. , PLoS genetics, 2011 Jun, Volume 7, Issue 6, p.e1002118, (2011) 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
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

about seo