Risultati della ricerca - Brunner, Han G.

2017 Curt Stern Award Introduction: Nico Katsanis di Brunner, Han G.

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Splitting p63 di van Bokhoven, Hans, Brunner, Han G.

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Bioinformatics methods for identifying candidate disease genes di van Driel, Marc A, Brunner, Han G

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Leveraging genomic diversity to promote human and animal health di Ramsay, Michèle, Brunner, Han G., Djikeng, Appolinaire

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Ciliary Dyneins and Dynein Related Ciliopathies di Antony, Dinu, Brunner, Han G., Schmidts, Miriam

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The Biological Coherence of Human Phenome Databases di Oti, Martin, Huynen, Martijn A., Brunner, Han G.

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

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

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Conserved co-expression for candidate disease gene prioritization di Oti, Martin, van Reeuwijk, Jeroen, Huynen, Martijn A, Brunner, Han G

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Status quo of annotation of human disease variants di Venselaar, Hanka, Camilli, Franscesca, Gholizadeh, Shima, Snelleman, Marlou, Brunner, Han G, Vriend, Gert

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Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact di Landsbergen, Karin M., Prins, Judith B., Brunner, Han G., Kraaimaat, Floris W., Hoogerbrugge, Nicoline

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Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families di Ghofrani, Mohammad, Yahyaei, Mahin, Brunner, Han G., Cremers, Frans P.M., Movasat, Morteza, Khan, Muhammad Imran, Keramatipour, Mohammad

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Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2 di Kets, Carolien M, Hoogerbrugge, Nicoline, van Krieken, Joannes H J M, Goossens, Monique, Brunner, Han G, Ligtenberg, Marjolijn J L

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The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study di Schoot, Vyne van der, Viellevoije, Simone J., Tammer, Femke, Brunner, Han G., Arens, Yvonne, Yntema, Helger G., Oerlemans, Anke J. M.

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Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy di Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P. M.

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Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome di Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G., Bongers, Ernie M. H. F., O'Driscoll, Mark, Jeggo, Penny A.

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DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct di Sie, Aisha S, Spruijt, Liesbeth, van Zelst-Stams, Wendy AG, Mensenkamp, Arjen R, Ligtenberg, Marjolijn J, Brunner, Han G, Prins, Judith B, Hoogerbrugge, Nicoline

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Meier-Gorlin syndrome di de Munnik, Sonja A., Hoefsloot, Elisabeth H., Roukema, Jolt, Schoots, Jeroen, Knoers, Nine VAM, Brunner, Han G., Jackson, Andrew P., Bongers, Ernie MHF

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes di 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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Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome di Snijders Blok, Lot, Goosen, Y. Max, van Haaften, Leenke, van Hulst, Karen, Fisher, Simon E., Brunner, Han G., Egger, Jos I. M., Kleefstra, Tjitske

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