Arthroscopic Meniscus Repair: Clinical and Isokinetic Results

ανά Erggelet, Christoph, Grosse, Carmen, Henche, Hans-Rudolph, De Koning, Bart
Έκδοση 1998

Fidelity in Archaeal Information Processing

ανά de Koning, Bart, Blombach, Fabian, Brouns, Stan J. J., van der Oost, John
Έκδοση 2010

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

ανά Nguyen, Minh, Boesten, Iris, Hellebrekers, Debby M E I, Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, de Coo, Irenaeus F M, Gerards, Mike, Smeets, Hubert J M
Τόπος έκδοσης Eur J Hum Genet (2016)

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

ανά Jóri, Balazs, Kamps, Rick, Xanthoulea, Sofia, Delvoux, Bert, Blok, Marinus J., Van de Vijver, Koen K., de Koning, Bart, Oei, Felicia Trups, Tops, Carli M., Speel, Ernst J. M., Kruitwagen, Roy F., Gomez-Garcia, Encarna B., Romano, Andrea
Τόπος έκδοσης Oncotarget (2015)

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

ανά Sallevelt, Suzanne C. E. H., Stegmann, Alexander P. A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E. M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D. C.
Τόπος έκδοσης Genet Med (2021)

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

ανά Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Τόπος έκδοσης Front Neurol (2016)

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

ανά Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E., Hellebrekers, Debby M. E. I., Sallevelt, Suzanne C. E. H., Boesten, Iris B., de Koning, Bart, van den Bosch, Bianca J., Salomons, Gajja S., Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Vanoevelen, Jo M., Smeets, Hubert J. M.
Τόπος έκδοσης Eur J Hum Genet (2018)

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

ανά Almomani, Rowida, Marchi, Margherita, Sopacua, Maurice, Lindsey, Patrick, Salvi, Erika, de Koning, Bart, Santoro, Silvia, Magri, Stefania, Smeets, Hubert J. M., Martinelli Boneschi, Filippo, Malik, Rayaz R., Ziegler, Dan, Hoeijmakers, Janneke G. J., Bönhof, Gidon, Dib-Hajj, Sulayman, Waxman, Stephen G., Merkies, Ingemar S. J., Lauria, Giuseppe, Faber, Catharina G., Gerrits, Monique M.
Τόπος έκδοσης PLoS One (2020)

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

ανά Almomani, Rowida, Marchi, Margherita, Sopacua, Maurice, Lindsey, Patrick, Salvi, Erika, de Koning, Bart, Santoro, Silvia, Magri, Stefania, Smeets, Hubert J. M., Boneschi, Filippo Martinelli, Malik, Rayaz A., Ziegler, Dan, Hoeijmakers, Janneke G. J., Bönhof, Gidon, Dib-Hajj, Sulayman, Waxman, Stephen G., Merkies, Ingemar S. J., Lauria, Giuseppe, Faber, Catharina G., Gerrits, Monique M.
Τόπος έκδοσης PLoS One (2021)

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

ανά Theunissen, Tom E. J., Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T., Sallevelt, Suzanne C. E. H., Gottschalk, Ralph W. H., Calis, Chantal M., Stassen, Alphons P. M., de Koning, Bart, Mulder-Den Hartog, Elvira N. M., Schoonderwoerd, Kees, Fuchs, Sabine A., Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F. M., Hellebrekers, Debby M. E. I., Smeets, Hubert J. M.
Τόπος έκδοσης Front Genet (2018)

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

ανά Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Τόπος έκδοσης Hum Mutat (2019)

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

ανά Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky JJ, van den Hout, Mirjam CGN, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan DH, Kamps, Rick, Kockx, Christel EM, de Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan T, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Τόπος έκδοσης Eur J Hum Genet (2015)

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

ανά Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Τόπος έκδοσης Eur J Hum Genet (2015)