Search Results - "Menchen, T"

Pathogenic gene variants in CCDC39 , CCDC40 , RSPH1 , RSPH9 , HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility by Aprea, I, Wilken, A, Krallmann, C, Nöthe-Menchen, T, Olbrich, H, Loges, N T, Dougherty, G W, Bracht, D, Brenker, C, Kliesch, S, Strünker, T, Tüttelmann, F, Raidt, J, Omran, H

“…Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting the function of motile cilia in several organ systems. In PCD, male infertility is caused…”
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Assessment of the diagnostic utility of the electroencephalogram in pediatric emergencies by Abenza Abildúa, M.J., Olmedo Menchen, T., Pérez Villena, A., Ruhland Paulete, S., José Navacerrad, F., Barrero, de Ojeda Ruíz de Luna, J., Algarra Lucas, C., Cordero Martín, G., Martínez Ubierna, S., Jimeno Montero, C., Navarro López, I.J., Suárez Gisbert, E., Gómez de la Riva, Á., Pérez López, C., Herreros Fernández, M.L.

“…We analyze the diagnostic utility of urgent EEG (electroencephalogram) performed in children under 16 years of age in our center. Descriptive, retrospective,…”
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Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151 by Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H

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Evaluation of zone electrophoresis of serum proteins performed on the Helena Laboratories rapid electrophoresis analyser by Jimenez, A, Cantero, M, Menchen, T, Conejo, J, Benedito, E

“…Zone electrophoresis of serum proteins is still widely performed as a routine procedure in clinical laboratories. It is used in the diagnosis and management of…”
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Valoración de la utilidad diagnóstica del electroencefalograma en urgencias pediátricas by Abenza Abildúa, M.J., Olmedo Menchen, T., Pérez Villena, A., Ruhland Paulete, S., José Navacerrada Barrero, F., de Ojeda Ruíz de Luna, J., Algarra Lucas, C., Cordero Martín, G., Martínez Ubierna, S., Jimeno Montero, C., Navarro López, I.J., Suárez Gisbert, E., Gómez de la Riva, Á., Pérez López, C., Herreros Fernández, M.L.

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Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia by Wallmeier, J, Boon, M, Mutairi, D Al, Loges, NT, Ma, L, Chen, C-T, Olbrich, H, Pennekamp, P, Menchen, T, Dougherty, G, Werner, C, Jaspers, M, Griese, M, Horak, E, Körner-Rettberg, C, Schmitt-Grohé, S, Zimmermann, T, Hevroni, A, Abitbul, R, Avital, A, Soferman, R, Amirav, I, Mitchison, H, Jorissen, M, Alkuraya, F, Kintner, C, Omran, H

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Diagnostic value of three tumor markers determined in pleural effusions by Conejo, J R, Benedito, J E, Jimenez, A, Menchen, M, Cano, J, Granizo, V, Larrodera, L

“…In order to discriminate between malignant and benign effusions, the values of tissue polypeptide specific antigen,carcinoembryonic antigen and squamous cell…”
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