Arama Sonuçları - de Vries, Bert B.A.

Diagnostic Genome Profiling: Unbiased Whole Genome or Targeted Analysis? Yazar: Veltman, Joris A., de Vries, Bert B.A.

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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient Yazar: Polla, Daniel L., Saunders, Harriet R., de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.

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Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models Yazar: Webber, Caleb, Hehir-Kwa, Jayne Y., Nguyen, Duc-Quang, de Vries, Bert B. A., Veltman, Joris A., Ponting, Chris P.

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Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q Yazar: de Vries, Bert B. A., Arts, Willem F. M., Breedveld, Guido J., Hoogeboom, Jeannette J. M., Niermeijer, Martinus F., Heutink, Peter

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Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation Yazar: Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.

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Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders Yazar: Andrews, Tallulah, Meader, Stephen, Vulto-van Silfhout, Anneke, Taylor, Avigail, Steinberg, Julia, Hehir-Kwa, Jayne, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B. A., Webber, Caleb

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Cerebral visual impairment and intellectual disability caused by PGAP1 variants Yazar: Bosch, Daniëlle G M, Boonstra, F Nienke, Kinoshita, Taroh, Jhangiani, Shalini, de Ligt, Joep, Cremers, Frans P M, Lupski, James R, Murakami, Yoshiko, de Vries, Bert B A

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome Yazar: Dingemans, Alexander J. M., Stremmelaar, Diante E., van der Donk, Roos, Vissers, Lisenka E. L. M., Koolen, David A., Rump, Patrick, Hehir-Kwa, Jayne Y., de Vries, Bert B. A.

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Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons Yazar: Klein Gunnewiek, Teun M., Verboven, Anouk H.A., Pelgrim, Iris, Hogeweg, Mark, Schoenmaker, Chantal, Renkema, Herma, Beyrath, Julien, Smeitink, Jan, de Vries, Bert B.A., Hoen, Peter-Bram A.C. ’t, Kozicz, Tamas, Nadif Kasri, Nael

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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus Yazar: Nabais Sá, Maria J, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, de Brouwer, Arjan P M, Dinman, Jonathan D, de Vries, Bert B A

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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders Yazar: van der Werf, Ilse M., Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, R. Frank, Vandeweyer, Geert

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome Yazar: Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans

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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders Yazar: van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.

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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility Yazar: Engwerda, Aafke, Leenders, Erika K. S. M., Frentz, Barbara, Terhal, Paulien A., Löhner, Katharina, de Vries, Bert B. A., Dijkhuizen, Trijnie, Vos, Yvonne J., Rinne, Tuula, van den Berg, Maarten P., Roofthooft, Marc T. R., Deelen, Patrick, van Ravenswaaij-Arts, Conny M. A., Kerstjens-Frederikse, Wilhelmina S.

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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Yazar: Linda, Katrin, Lewerissa, Elly I., Verboven, Anouk H. A., Gabriele, Michele, Frega, Monica, Klein Gunnewiek, Teun M., Devilee, Lynn, Ulferts, Edda, Hommersom, Marina, Oudakker, Astrid, Schoenmaker, Chantal, van Bokhoven, Hans, Schubert, Dirk, Testa, Giuseppe, Koolen, David A., de Vries, Bert B.A., Nadif Kasri, Nael

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Yazar: Willatt, Lionel , Cox, James , Barber, John , Cabanas, Elisabet Dachs , Collins, Amanda , Donnai, Dian , FitzPatrick, David R. , Maher, Eddy , Martin, Howard , Parnau, Josep , Pindar, Lesley , Ramsay, Jacqueline , Shaw-Smith, Charles , Sistermans, Erik A. , Tettenborn, Michael , Trump, Dorothy , de Vries, Bert B. A. , Walker, Kate , Raymond, F. Lucy 

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Homozygosity mapping in outbred families with mental retardation Yazar: Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Joris A, van Bokhoven, Hans, de Brouwer, Arjan P M, de Vries, Bert B A

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome Yazar: Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.

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CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability Yazar: Verkerk, Annemieke J. M. H., Zeidler, Shimriet, Breedveld, Guido, Overbeek, Lydia, Huigh, Daphne, Koster, Linda, van der Linde, Herma, de Esch, Celine, Severijnen, Lies-Anne, de Vries, Bert B. A., Swagemakers, Sigrid M. A., Willemsen, Rob, Hoogeboom, A. Jeannette M., van der Spek, Peter J., Oostra, Ben A.

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Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information Yazar: Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.

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