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American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, p. 1014
The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin... 
Proteins | Eukaryotes | DNA damage | Cognitive ability | Cell division | Mutation | Developmental disabilities
Journal Article
European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 3, pp. 366 - 366
Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Daughters | De Lange's syndrome | Chromatin | Missense mutation | Growth rate | Deodorants | Congenital defects | N-Terminus | Cognitive ability | Cohesin | Mutation | Corrigendum
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
by Kaiser, Frank J and Ansari, Morad and Braunholz, Diana and Concepción Gil-Roíguez, María and Decroos, Christophe and Wilde, Jonathan J and Fincher, Christopher T and Kaur, Maninder and Bando, Masashige and Amor, David J and Atwal, Paldeep S and Bahlo, Melanie and Bowman, Christine M and Bradley, Jacquelyn J and Brunner, Han G and Clark, Dinah and del Campo, Miguel and Di Donato, Nataliya and Diakumis, Peter and Dubbs, Holly and Dyment, David A and Eckhold, Juliane and Ernst, Sarah and Ferreira, Jose C and Francey, Lauren J and Gehlken, Ulrike and Guillén-Navarro, Encarna and Gyftodimou, Yolanda and Hall, Bryan D and Hennekam, Raoul and Hudgins, Louanne and Hullings, Melanie and Hunter, Jennifer M and Yntema, Helger and Innes, A. Micheil and Kline, Antonie D and Krumina, Zita and Lee, Hane and Leppig, Kathleen and Lynch, Sally Ann and Mallozzi, Mark B and Mannini, Linda and McKee, Shane and Mehta, Sarju G and Micule, Ieva and Mohammed, Shehla and Moran, Ellen and Mortier, Geert R and Moser, Joe-Ann S and Noon, Sarah E and Nozaki, Naohito and Nunes, Luis and Pappas, John G and Penney, Lynette S and Pérez-Aytés, Antonio and Petersen, Michael B and Puisac, Beatriz and Revencu, Nicole and Roeder, Elizabeth and Saitta, Sulagna and Scheuerle, Angela E and Schindeler, Karen L and Siu, Victoria M and Stark, Zornitza and Strom, Samuel P and Thiese, Heidi and Vater, Inga and Willems, Patrick and Williamson, Kathleen and Wilson, Louise C and Hakonarson, Hakon and Quintero-Rivera, Fabiola and Wierzba, Jolanta and Musio, Antonio and Gillessen-Kaesbach, Gabriele and Ramos, Feliciano J and Jackson, Laird G and Shirahige, Katsuhiko and Pié, Juan and Christianson, David W and Krantz, Ian D and Fitzpatrick, David R and Deardorff, Matthew A and Univ Washington Ctr Mendelian Geno and CareRare Canada Consortium and Care4Rare Canada Consortium and University of Washington Center for Mendelian Genomics
Human molecular genetics, ISSN 0964-6906, 2014, Volume 23, Issue 11, pp. 2888 - 2900
Journal Article
Cirugia Espanola, ISSN 0009-739X, 12/2018, Volume 96, Issue 10, pp. 640 - 647
Introduction: Surgical site infection (SSI) is the main cause of nosocomial infection in Spain. The aim of this study was to analyze the incidence of SSI and... 
Epidemiological surveillance | Surgical site infection | Cohort study | Rectal surgery | Risk factors | Incidence | Surgical Wound Infection - epidemiology | Prospective Studies | Risk Assessment | Rectal Neoplasms - surgery | Humans | Risk Factors | Female | Male | Aged | Rectum - surgery | Cohort Studies
Journal Article
Cirugía Española, ISSN 0009-739X, 2018, Volume 96, Issue 10, pp. 640 - 647
Resumen Introducción La infección de sitio quirúrgico (ISQ) es la principal causa de infección nosocomial. El objetivo de este trabajo fue estudiar la... 
Surgery | Estudio de cohortes | Vigilancia epidemiológica | Rectal surgery | Cohort study | Cirugía de recto | Surgical site infection | Epidemiological surveillance | Factores de riesgo | Incidencia | Infección de sitio quirúrgico | Risk factors | Incidence
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 454 - 462
Journal Article
Revista Española de Enfermedades Digestivas, ISSN 1130-0108, 01/2016, Volume 108, Issue 1, pp. 15 - 19
Background: Antibiotic prophylaxis is an effective tool to reduce surgical infection rates. However, antibiotic prophylaxis in cholecystectomy is controversial... 
Gastroenterology & Hepatology | Pathology | Radiology, Nuclear Medicine & Medical Imaging | Surgery | Geriatrics & Gerontology | Pharmacology & Pharmacy | Infectious Diseases | Oncology
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2013, Volume 108, Issue 4, pp. 232 - 240
Eukaryotic cells can be protected against mutations that generate stop codons by nonsense-mediated mRNA decay (NMD) and/or nonsense-associated altered splicing... 
Polymerase chain reaction | Enhancers | Missense mutation | Splicing | puromycin | Stop codon | Ketone bodies | Children | nonsense-mediated mRNA decay | Bioinformatics | aciduria
Journal Article
Cirugía Española (English Edition), ISSN 2173-5077, 12/2018, Volume 96, Issue 10, pp. 640 - 647
Surgical site infection (SSI) is the main cause of nosocomial infection in Spain. The aim of this study was to analyze the incidence of SSI and to evaluate its... 
Estudio de cohortes | Rectal surgery | Cohort study | Vigilancia epidemiológica | Surgical site infection | Epidemiological surveillance | Cirugía de recto | Factores de riesgo | Incidencia | Infección de sitio quirúrgico | Risk factors | Incidence
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