Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome

Authors: Staudacher, Olga, Klein, Jeanette, Thee, Stephanie, Ullrich, Jan, Wahn, Volker, Unterwalder, Nadine, Kölsch, Uwe, Lankes, Erwin, Stittrich, Anna, Dedieu, Cinzia, Dinges, Sarah, Völler, Mirjam, Schuetz, Catharina, Schulte, Johannes, Boztug, Kaan, Meisel, Christian, Kuehl, Jörn-Sven, Krüger, Renate, Blankenstein, Oliver, von Bernuth, Horst

Source: In The Journal of Allergy and Clinical Immunology: In Practice September 2023 11(9):2872-2883

Newborn screening for homocystinurias: Recent recommendations versus current practice

Authors: Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

Source: Journal of inherited metabolic disease. 42(1):128-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087697002.0x000001&indx=1&recIds=ETOCvdc_100087697002.0x000001

Folate deficiency increases mtDNA and D-1 mtDNA deletion in aged brain of mice lacking uracil-DNA glycosylase

Authors: Kronenberg, Golo, Gertz, Karen, Overall, Rupert W., Harms, Christoph, Klein, Jeanette, Page, Melissa M., Stuart, Jeffrey A., Endres, Matthias

Source: In Experimental Neurology 2011 228(2):253-258

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The causes and petrological significance of cathodoluminescence emissions from alkali feldspars.

Authors: Finch, Adrian A., Klein, Jeanette

Source: Contributions to Mineralogy & Petrology. May99, Vol. 135 Issue 2/3, p234. 9p. 1 Chart, 6 Graphs.

Subject Terms: *CATHODOLUMINESCENCE, *FELDSPAR, *PETROLOGY, *SPECTRUM analysis

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