Arama Sonuçları - Veltman, Joris A.

De novo mutations in mental retardation Yazar: Veltman, Joris A

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De novo diagnostics of patients with intellectual disability Yazar: Veltman, Joris A

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The role of de novo mutations in adult-onset neurodegenerative disorders Yazar: Nicolas, Gaël, Veltman, Joris A.

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From genes to genomes in the clinic Yazar: Veltman, Joris A., Lupski, James R.

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

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Novel bioinformatic developments for exome sequencing Yazar: Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian

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New insights into the generation and role of de novo mutations in health and disease Yazar: Acuna-Hidalgo, Rocio, Veltman, Joris A., Hoischen, Alexander

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Unlocking Mendelian disease using exome sequencing Yazar: Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A

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Disease gene identification strategies for exome sequencing Yazar: Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A

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Clinical exome sequencing in daily practice: 1,000 patients and beyond Yazar: van Zelst-Stams, Wendy A, Scheffer, Hans, Veltman, Joris A

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Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics Yazar: Wiel, Laurens, Venselaar, Hanka, Veltman, Joris A., Vriend, Gert, Gilissen, Christian

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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains Yazar: Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian

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A systematic review and standardized clinical validity assessment of male infertility genes Yazar: Oud, Manon S, Volozonoka, Ludmila, Smits, Roos M, Vissers, Lisenka E L M, Ramos, Liliana, Veltman, Joris A

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Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on... Yazar: Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, van Kessel, Ad Geurts, Veltman, Joris A.

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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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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment Yazar: Chen, Xiaowei Sylvia, Reader, Rose H., Hoischen, Alexander, Veltman, Joris A., Simpson, Nuala H., Francks, Clyde, Newbury, Dianne F., Fisher, Simon E.

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An integrated framework of personalized medicine: from individual genomes to participatory health care Yazar: Evers, Andrea W.M., Rovers, Maroeska M., Kremer, Jan A.M., Veltman, Joris A., Schalken, Jack A., Bloem, Bas R., van Gool, Alain J.

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes Yazar: Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian

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Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients Yazar: Gunadi, Kalim, Alvin Santoso, Budi, Nova Yuli Prasetyo, Hafiq, Hamzah Muhammad, Maharani, Annisa, Febrianti, Maharani, Ryantono, Fiko, Yulianda, Dicky, Iskandar, Kristy, Veltman, Joris A.

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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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