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Genetics The Genetics collection covers topics such as BRCA, gene therapy, and gene mutations and polymorphisms and includes research articles, case reports, reviews, and editorial commentary.  Subscribe to the Genetics
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1-20 (of 1095 results)
| Most recent content (19 Nov 2009): |
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Glocker E.-O., Kotlarz D., Boztug K., Gertz E. M., Schäffer A. A., Noyan F., Perro M., Diestelhorst J., Allroth A., Murugan D., Hätscher N., Pfeifer D., Sykora K.-W., Sauer M., Kreipe H., Lacher M., Nustede R., Woellner C., Baumann U., Salzer U., Koletzko S., Shah N., Segal A. W., Sauerbrey A., Buderus S., Snapper S. B., Grimbacher B., Klein C.
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N Engl J Med 2009;
361:2033-2045, Nov 19, 2009;
published at www.nejm.org on Nov 4, 2009 (10.1056/NEJMoa0907206).
Original Articles
Combined Immunodeficiency Associated with DOCK8 Mutations
Zhang Q., Davis J. C., Lamborn I. T., Freeman A. F., Jing H., Favreau A. J., Matthews H. F., Davis J., Turner M. L., Uzel G., Holland S. M., Su H. C.
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N Engl J Med 2009;
361:2046-2055, Nov 19, 2009;
published at www.nejm.org on Sep 23, 2009 (10.1056/NEJMoa0905506).
Original Articles
A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure
Mead S., Whitfield J., Poulter M., Shah P., Uphill J., Campbell T., Al-Dujaily H., Hummerich H., Beck J., Mein C. A., Verzilli C., Whittaker J., Alpers M. P., Collinge J.
Abstract |
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N Engl J Med 2009;
361:2056-2065, Nov 19, 2009.
Original Articles
Mechanisms of Disease: Inflammatory Bowel Disease
Abraham C., Cho J. H.
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CME Exam
N Engl J Med 2009;
361:2066-2078, Nov 19, 2009.
Review Articles
Case 36-2009 — A 23-Year-Old Man with Cough, Hoarseness, and Abnormalities on Chest Imaging
Choy E., Digumarthy S. R., Koplin S. A.
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CME Exam
N Engl J Med 2009;
361:2080-2087, Nov 19, 2009.
Case Records of the Massachusetts General Hospital
Interleukin-10 in Inflammatory Bowel Disease
Kelsall B.
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N Engl J Med 2009;
361:2091-2093, Nov 19, 2009;
published at www.nejm.org on Nov 4, 2009 (10.1056/NEJMe0909225).
Editorials
The Hedgehog Pathway and Pancreatic Cancer
Hidalgo M., Maitra A.
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N Engl J Med 2009;
361:2094-2096, Nov 19, 2009.
Clinical Implications of Basic Research
| Earlier content (since Jan 1996): |
Brief Report:Normal Spermatogenesis in a Man with Mutant Luteinizing Hormone
Achard C., Courtillot C., Lahuna O., Méduri G., Soufir J.-C., Lière P., Bachelot A., Benyounes H., Schumacher M., Kuttenn F., Touraine P., Misrahi M.
Summary |
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N Engl J Med 2009;
361:1856-1863, Nov 5, 2009.
Original Articles
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Glocker E.-O., Kotlarz D., Boztug K., Gertz E. M., Schäffer A. A., Noyan F., Perro M., Diestelhorst J., Allroth A., Murugan D., Hätscher N., Pfeifer D., Sykora K.-W., Sauer M., Kreipe H., Lacher M., Nustede R., Woellner C., Baumann U., Salzer U., Koletzko S., Shah N., Segal A. W., Sauerbrey A., Buderus S., Snapper S. B., Grimbacher B., Klein C.
Abstract |
Full Text |
PDF
N Engl J Med 2009;
published at www.nejm.org on
Nov 4, 2009
(10.1056/NEJMoa0907206).
Original Articles
Interleukin-10 in Inflammatory Bowel Disease
Kelsall B.
Extract |
Full Text |
PDF
N Engl J Med 2009;
published at www.nejm.org on
Nov 4, 2009
(10.1056/NEJMe0909225).
Editorials
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Glocker E.-O., Hennigs A., Nabavi M., Schäffer A. A., Woellner C., Salzer U., Pfeifer D., Veelken H., Warnatz K., Tahami F., Jamal S., Manguiat A., Rezaei N., Amirzargar A. A., Plebani A., Hannesschläger N., Gross O., Ruland J., Grimbacher B.
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N Engl J Med 2009;
361:1727-1735, Oct 29, 2009.
Original Articles
Brief Report:Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
Ferwerda B., Ferwerda G., Plantinga T. S., Willment J. A., van Spriel A. B., Venselaar H., Elbers C. C., Johnson M. D., Cambi A., Huysamen C., Jacobs L., Jansen T., Verheijen K., Masthoff L., Morré S. A., Vriend G., Williams D. L., Perfect J. R., Joosten L. A.B., Wijmenga C., van der Meer J. W.M., Adema G. J., Kullberg B. J., Brown G. D., Netea M. G.
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N Engl J Med 2009;
361:1760-1767, Oct 29, 2009.
Original Articles
Yeast Infections — Human Genetics on the Rise
Holland S. M., Vinh D. C.
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N Engl J Med 2009;
361:1798-1801, Oct 29, 2009.
Editorials
When Diseases Disappear — The Case of Familial Dysautonomia
Lerner B. H.
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N Engl J Med 2009;
361:1622-1625, Oct 22, 2009.
Perspective
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., Berg D., Bras J., Brice A., Chen C.-M., Clark L.N., Condroyer C., De Marco E.V., Dürr A., Eblan M.J., Fahn S., Farrer M.J., Fung H.-C., Gan-Or Z., Gasser T., Gershoni-Baruch R., Giladi N., Griffith A., Gurevich T., Januario C., Kropp P., Lang A.E., Lee-Chen G.-J., Lesage S., Marder K., Mata I.F., Mirelman A., Mitsui J., Mizuta I., Nicoletti G., Oliveira C., Ottman R., Orr-Urtreger A., Pereira L.V., Quattrone A., Rogaeva E., Rolfs A., Rosenbaum H., Rozenberg R., Samii A., Samaddar T., Schulte C., Sharma M., Singleton A., Spitz M., Tan E.-K., Tayebi N., Toda T., Troiano A.R., Tsuji S., Wittstock M., Wolfsberg T.G., Wu Y.-R., Zabetian C.P., Zhao Y., Ziegler S.G.
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N Engl J Med 2009;
361:1651-1661, Oct 22, 2009.
Original Articles
Brief Report:X-Linked Thrombophilia with a Mutant Factor IX (Factor IX Padua)
Simioni P., Tormene D., Tognin G., Gavasso S., Bulato C., Iacobelli N. P., Finn J. D., Spiezia L., Radu C., Arruda V. R.
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N Engl J Med 2009;
361:1671-1675, Oct 22, 2009.
Original Articles
Combined Immunodeficiency Associated with DOCK8 Mutations
Zhang Q., Davis J. C., Lamborn I. T., Freeman A. F., Jing H., Favreau A. J., Matthews H. F., Davis J., Turner M. L., Uzel G., Holland S. M., Su H. C.
Abstract |
Full Text |
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N Engl J Med 2009;
published at www.nejm.org on
Sep 23, 2009
(10.1056/NEJMoa0905506).
Original Articles
Mechanisms of Disease: Cell Death
Hotchkiss R. S., Strasser A., McDunn J. E., Swanson P. E.
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N Engl J Med 2009;
361:1570-1583, Oct 15, 2009.
Review Articles
Case 32-2009 — A 27-Year-Old Man with Progressive Dyspnea
Tager A. M., Sharma A., Mark E. J.
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N Engl J Med 2009;
361:1585-1593, Oct 15, 2009.
Case Records of the Massachusetts General Hospital
MicroRNA Expression, Survival, and Response to Interferon in Liver Cancer
Ji J., Shi J., Budhu A., Yu Z., Forgues M., Roessler S., Ambs S., Chen Y., Meltzer P. S., Croce C. M., Qin L.-X., Man K., Lo C.-M., Lee J., Ng I. O.L., Fan J., Tang Z.-Y., Sun H.-C., Wang X. W.
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N Engl J Med 2009;
361:1437-1447, Oct 8, 2009.
Original Articles
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