نتائج البحث - van der Veken, Lars T.

Elevated Infant Mortality Rate among Dutch Oral Cleft Cases: A Retrospective Analysis from 1997 to 2011 حسب van Nunen, Daan P. F., van den Boogaard, Marie-José H., Don Griot, J. Peter W., Rüttermann, Mike, van der Veken, Lars T., Breugem, Corstiaan C.

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Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias? حسب Giltay, Jacques C., Klijn, Aart J., de Jong, Tom P.V.M., Kats, Peter, van Breugel, Marjolijn, Lens, Susan, Vromans, Martijn, van der Veken, Lars T., Hochstenbach, Ron

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Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies حسب van der Veken, Lars T, Dieleman, Marianne MJ, Douben, Hannie, van de Brug, Judith C, van de Graaf, Raoul, Hoogeboom, A Jeannette M, Poddighe, Pino J, de Klein, Annelies

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Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM حسب van der Veken, Lars T., Maiburg, Merel C., Groenendaal, Floris, van Gijn, Mariëlle E., Bloem, Andries C., Erpelinck, Claudia, Gröschel, Stefan, Sanders, Mathijs A., Delwel, Ruud, Bierings, Marc B., Buijs, Arjan

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Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring حسب de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, Annette F., Renkens, Ivo, Duran, Karen J., van Binsbergen, Ellen, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P.

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ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29 حسب Venema, Wouter J., Hiddingh, Sanne, de Boer, Joke H., Claas, Frans H. J., Mulder, Arend, den Hollander, Anneke I., Stratikos, Efstratios, Sarkizova, Siranush, van der Veken, Lars T., Janssen, George M. C., van Veelen, Peter A., Kuiper, Jonas J. W.

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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management حسب Bayindir, Baran, Dehaspe, Luc, Brison, Nathalie, Brady, Paul, Ardui, Simon, Kammoun, Molka, Van der Veken, Lars, Lichtenbelt, Klaske, Van den Bogaert, Kris, Van Houdt, Jeroen, Peeters, Hilde, Van Esch, Hilde, de Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R

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National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies حسب Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., van der Veken, Lars T., Ernst, Robert F., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Hout, Annemieke H., Abbott, Kristin M., Hoischen, Alexander, Pieterse, Marc, Kuijpers, Taco W., van Montfrans, Joris M., van Gijn, Mariëlle E.

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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome) حسب Monroe, Glen R, Kappen, Isabelle FPM, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne MC, van der Veken, Lars T, van Es, Robert JJ, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs

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Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean حسب Verberne, Eline A., Westermann, Jonne M., de Vries, Tamar I., Ecury‐Goossen, Ginette M., Lo‐A‐Njoe, Shirley M., Manshande, Meindert E., Faries, Sonja, Veenhuis, Hans D., Philippi, Patricia, Falix, Farah A., Rosina‐Angelista, Irsa, Ponson‐Wever, Maria, Rafael‐Croes, Louise, Thorsen, Patricia, Arends, Eric, de Vroomen, Maartje, Nagelkerke, Sietse Q., Tilanus, Martijn, van der Veken, Lars T., Huijsdens‐van Amsterdam, Karin, van der Kevie‐Kersemaekers, Anne‐Marie, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M.

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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Ge... حسب Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S. V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A. S. H., Vermont, Clementien L., van de Ven, Annick A. J. M., Lambeck, Annechien J. A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., Kuijpers, Taco W., Frederix, Geert W. J., van Gijn, Mariëlle E., van Montfrans, Joris M.

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