المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A, Gianfrancesco F, Griffiths LR.

المصدر: Human molecular genetics
(2013).
info:cnr-pdr/source/autori:Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A, Gianfrancesco F, Griffiths LR./titolo:Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene./doi:/rivista:Human molecular genetics (Print)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::2658802f4ed103680446076a7de80497
http://www.cnr.it/prodotto/i/224081

المؤلفون: Bansal, GS, Cox, HC, Marsh, S, Gomm, JJ, Yiangou, C, Luqmani, Y, Coombes, RC, Johnston, CL, Bansal, G S, Cox, H C, Gomm, J J, Coombes, R C, Johnston, C L

المصدر: British Journal of Cancer; Jun1997, Vol. 75 Issue 11, p1567-1574, 8p

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المؤلفون: Hatton JN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Cox HC; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Crowley SB; Invitae Corporation, San Francisco, California, USA., Hiraki S; GeneDx, Gaithersburg, Maryland, USA., Yokoyama NN; Ambry Genetics, Aliso Viejo, California, USA., Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Amatruda JF; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Anderson MJ; Invitae Corporation, San Francisco, California, USA., Bofill-De Ros X; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA., Carr AG; Weststat, Inc, Rockville, Maryland, USA., Chao EC; Ambry Genetics, Aliso Viejo, California, USA.; Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, California, USA., Chen KS; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Gu S; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA., Higgs C; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Machado J; Exact Sciences Laboratories, Madison, Wisconsin, USA., Ritter D; Baylor College of Medicine, Houston, Texas, USA., Schultz KA; Cancer and Blood Disorders, Children's Minnesota, International Pleuropulmonary Blastoma/DICER1 Registry, Minneapolis, Minnesota, USA., Soper ER; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Wu MK; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Mester JL; GeneDx, Gaithersburg, Maryland, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Foulkes WD; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Witkowski L; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.

المصدر: Human mutation [Hum Mutat] 2023; Vol. 2023. Date of Electronic Publication: 2023 Mar 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing*/methods , Neoplasms*/genetics, Humans ; Genetic Variation ; Genome, Human ; Genomics/methods ; Germ Cells ; Ribonuclease III/genetics ; DEAD-box RNA Helicases/genetics

المؤلفون: Yau J; Department of Pharmacy Services, University of Virginia Health System, Charlottesville, Virginia., Dann J; Department of Pharmacy Services, University of Virginia Health System, Charlottesville, Virginia., Geyston J; Department of Pharmacy Services, University of Virginia Health System, Charlottesville, Virginia., Hall HC; Department of Pharmacy Services, University of Virginia Health System, Charlottesville, Virginia., Pelletier S; Division of Transplantation Surgery, Department of Surgery, University of Virginia Health System, Charlottesville, Virginia., Sifri CD; Division of Infectious Diseases & International Health, Department of Medicine, University of Virginia Health System, Charlottesville, Virginia.

المصدر: Antimicrobial stewardship & healthcare epidemiology : ASHE [Antimicrob Steward Healthc Epidemiol] 2022 Jan 24; Vol. 2 (1), pp. e13. Date of Electronic Publication: 2022 Jan 24 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9918266096106676 Publication Model: eCollection Cited Medium: Internet ISSN: 2732-494X (Electronic) Linking ISSN: 2732494X NLM ISO Abbreviation: Antimicrob Steward Healthc Epidemiol Subsets: PubMed not MEDLINE