Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip von Booij, Judith C., MD, PhD, Bakker, Arne, BSc, Kulumbetova, Jamilia, MD, PhD, Moutaoukil, Youssef, BSc, Smeets, Bert, PhD, Verheij, Joke, MD, PhD, Kroes, Hester Y., MD, PhD, Klaver, Caroline C.W., MD, PhD, van Schooneveld, Mary, MD, PhD, Bergen, Arthur A.B., PhD, Florijn, Ralph J., PhD

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Evidence of digenic inheritance in Alport syndrome von Mencarelli, Maria Antonietta, Heidet, Laurence, Storey, Helen, van Geel, Michel, Knebelmann, Bertrand, Fallerini, Chiara, Miglietti, Nunzia, Antonucci, Maria Fatima, Cetta, Francesco, Sayer, John A, van den Wijngaard, Arthur, Yau, Shu, Mari, Francesca, Bruttini, Mirella, Ariani, Francesca, Dahan, Karin, Smeets, Bert, Antignac, Corinne, Flinter, Frances, Renieri, Alessandra

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Beyond CSF and Neuroimaging Assessment: Evaluating Plasma miR-145-5p as a Potential Biomarker for Mild Cognitive Impairment and Alzheimer’s Disease von Wen, Qingfeng, Wittens, Mandy Melissa Jane, Engelborghs, Sebastiaan, van Herwijnen, Marcel H. M., Tsamou, Maria, Roggen, Erwin, Smeets, Bert, Krauskopf, Julian, Briedé, Jacco Jan

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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... von Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon F., Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, Gai, Xiaowu, Bale, Sherri, Bedoyan, Jirair, Behar, Doron, Bonnen, Penelope, Brooks, Lisa, Calabrese, Claudia, Calvo, Sarah, Chinnery, Patrick, Christodoulou, John, Church, Deanna, Clima, Rosanna, Cohen, Bruce H., Cotton, Richard G., de Coo, I.F.M., Derbenevoa, Olga, den Dunnen, Johan T., Dimmock, David, Enns, Gregory, Gasparre, Giuseppe, Goldstein, Amy, Gonzalez, Iris, Gwinn, Katrina, Hahn, Sihoun, Haas, Richard H., Hakonarson, Hakon, Hirano, Michio, Kerr, Douglas, Li, Dong, Lvova, Maria, Macrae, Finley, Maglott, Donna, McCormick, Elizabeth, Mitchell, Grant, Mootha, Vamsi K., Okazaki, Yasushi, Pujol, Aurora, Parisi, Melissa, Perin, Juan Carlos, Pierce, Eric A., Procaccio, Vincent, Rahman, Shamima, Reddi, Honey, Rehm, Heidi, Riggs, Erin, Rodenburg, Richard, Rubinstein, Yaffa, Saneto, Russell, Santorsola, Mariangela, Scharfe, Curt, Sheldon, Claire, Shoubridge, Eric A., Simone, Domenico, Smeets, Bert, Smeitink, Jan A., Stanley, Christine, Suomalainen, Anu, Tarnopolsky, Mark, Thiffault, Isabelle, Thorburn, David R., Van Hove, Johan, Wolfe, Lynne, Wong, Lee-Jun

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503. Circulating microRNAs as Potential Biomarkers of Differential Susceptibility to Traumatic Stress von de Nijs, Laurence, Krauskopf, Julian, Kleinjans, Jos, Machiels, Barbie, Snijders, Clara, Smeets, Bert, Kenis, Gunter, van den Hove, Daniel, Vinkers, Christiaan, Geuze, Elbert, Boks, Marco, Vermetten, Eric, Rutten, Bart

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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice von Bredenoord, Annelien, Dondorp, Wybo, Pennings, Guido, de Die-Smulders, Christine, Smeets, Bert, de Wert, Guido

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Circulating microRNAs as Potential Biomarkers of Differential Susceptibility to Traumatic Stress von de Nijs, Laurence, Krauskopf, Julian, Kleinjans, Jos, Machiels, Barbie, Snijders, Clara, Smeets, Bert, Kenis, Gunter, van den Hove, Daniel, Vinkers, Christiaan, Geuze, Elbert, Boks, Marco, Vermetten, Eric, Rutten, Bart

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TGF-β stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level von Abnaof, Khalid, Mallela, Nikhil, Walenda, Gudrun, Meurer, Steffen K, Seré, Kristin, Lin, Qiong, Smeets, Bert, Hoffmann, Kurt, Wagner, Wolfgang, Zenke, Martin, Weiskirchen, Ralf, Fröhlich, Holger

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AAV2-mediated delivery of nucleic acid or protein to the mitochondrial matrix as a treatment for Lebers Hereditary Optic Neuropathy von Huston, Marshall W., Mastroberardino, Pier G., de Vrij, Jeroen, Smeets, Bert H., Wagemaker, Gerard, deCoo, René I.

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279. Efficient and Safe Lentiviral Vector-Mediated Hematopoietic Stem Cell Gene Therapy in MNGIE Mice von Yadak, Rana, Torronteras, Javier T., Pérez, Raquel C., Bogaerts, Elly, de Ruijter, George, Barquinero, Jordi, Marti, Ramon, Smeets, Bert J., Huston, Marshall W., van Til, Niek P., Wagemaker, Gerard, de Coo, René F.M.

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Germline Mitochondrial DNA Mutations As a Novel First Event in Childhood Myelodysplastic Syndrome von de Vries, Andrica, Zwaan, Christian M., Beverloo, H. Berna, Wagner, Anja, Lankester, Arjan, te Boekhorst, Peter, de Coo, Rene, Schoonderwoerd, Kees, Smeets, Bert, Polychronopoulou, Sophia, Pieters, Rob, van den Heuvel, Marry M.

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TGF-[beta] stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level von Abnaof, Khalid, Mallela, Nikhil, Walenda, Gudrun, Meurer, Steffen K, Serñ, Kristin, Lin, Qiong, Smeets, Bert, Hoffmann, Kurt, Wagner, Wolfgang, Zenke, Martin, Weiskirchen, Ralf, Fröhlich, Holger

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Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q von Schonk, Dominique, Coerwinkel-Driessen, Marga, van Dalen, Ineke, Oerlemans, Frank, Smeets, Bert, Schepens, Jan, Hulsebos, Theo, Cockburn, David, Boyd, Yvonne, Davis, Mary, Rettig, Wolfgang, Shaw, Duncan, Roses, Alan, Ropers, Hilger, Wieringa, Bé

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Molecular Genetics of X-Linked Hearing Impairment von BRUNNER, HAN G., SMEETS, BERT, SMEETS, DOMINIQUE, NELEN, MARCEL, CREMERS, COR W. R. J., ROPERS, HANS-HILGER

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Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides von SMEETS, B, PODDIGHE, J, BRUNNER, H, ROPERS, H.-H, WIERINGA, B

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Selective Oxidation of Methane by the Bis(μ-oxo)dicopper Core Stabilized on ZSM-5 and Mordenite Zeolites von Groothaert, Marijke H, Smeets, Pieter J, Sels, Bert F, Jacobs, Pierre A, Schoonheydt, Robert A

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Oxygen Precursor to the Reactive Intermediate in Methanol Synthesis by Cu-ZSM-5 von Smeets, Pieter J, Hadt, Ryan G, Woertink, Julia S, Vanelderen, Pieter, Schoonheydt, Robert A, Sels, Bert F, Solomon, Edward I

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Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands von Kerstens, Hans C. J. W, Van Lith, Bas J. H, Nijkrake, Maarten J, De Swart, Bert J. M, Van den Bemd, Laura A. C, Smeets, Rob J. E. M, Klemens, Fheodoroff, Van de Warrenburg, Bart P. C, Van der Wees, Philip J, Geurts, Alexander C. H

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Epidemiology of knee osteoarthritis in general practice: a registry-based study von Spitaels, David, Mamouris, Pavlos, Vaes, Bert, Smeets, Miek, Luyten, Frank, Hermens, Rosella, Vankrunkelsven, Patrik

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Cu-ZSM-5: A biomimetic inorganic model for methane oxidation von Vanelderen, Pieter, Hadt, Ryan G., Smeets, Pieter J., Solomon, Edward I., Schoonheydt, Robert A., Sels, Bert F.

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