Resultados de procura - Nürnberg, Peter

Securing the use of existing sample collections for future human genetic research por Kanoungi, George, Nürnberg, Peter, Nothnagel, Michael

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HomozygosityMapper—an interactive approach to homozygosity mapping por Seelow, Dominik, Schuelke, Markus, Hildebrandt, Friedhelm, Nürnberg, Peter

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Next Generation Sequencing of miRNAs – Strategies, Resources and Methods por Motameny, Susanne, Wolters, Stefanie, Nürnberg, Peter, Schumacher, Björn

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Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations por du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J., Rutsch, Frank

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Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database por Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis

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Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia por Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin

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Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques por Widdig, Anja, Nürnberg, Peter, Krawczak, Michael, Streich, Wolf Jürgen, Bercovitch, Fred B.

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Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras por Hannan, Frances, Ho, Ivan, Tong, James Jiayuan, Zhu, Yinghua, Nurnberg, Peter, Zhong, Yi

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A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness por Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn

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A longitudinal analysis of reproductive skew in male rhesus macaques. por Widdig, Anja, Bercovitch, Fred B., Streich, Wolf Jürgen, Sauermann, Ulrike, Nürnberg, Peter, Krawczak, Michael

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Adequate use of allele frequencies in Hispanics—a problem elucidated in nephrotic syndrome por Chernin, Gil, Heeringa, Saskia F., Vega-Warner, Virginia, Schoeb, Dominik S., Nürnberg, Peter, Hildebrandt, Friedhelm

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Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation por Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.

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Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span por Hämmerer, Dorothea, Biele, Gudio, Müller, Viktor, Thiele, Holger, Nürnberg, Peter, Heekeren, Hauke R., Li, Shu-Chen

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Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function por Breitenkamp, Alexandra F. S., Matthes, Jan, Nass, Robert Daniel, Sinzig, Judith, Lehmkuhl, Gerd, Nürnberg, Peter, Herzig, Stefan

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Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit por Hatzold, Julia, Beleggia, Filippo, Herzig, Hannah, Altmüller, Janine, Nürnberg, Peter, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias

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Genes from Chagas Susceptibility Loci That Are Differentially Expressed in T. cruzi-Resistant Mice Are Candidates Accounting for Impaired Immunity por Graefe, Sebastian E. B., Streichert, Thomas, Budde, Birgit S., Nürnberg, Peter, Steeg, Christiane, Müller-Myhsok, Bertram, Fleischer, Bernhard

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Genome-wide Analysis Indicates More Asian than Melanesian Ancestry of Polynesians por Kayser, Manfred, Lao, Oscar, Saar, Kathrin, Brauer, Silke, Wang, Xingyu, Nürnberg, Peter, Trent, Ronald J., Stoneking, Mark

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Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria por Kloeckener-Gruissem, Barbara, Vandekerckhove, Kristof, Nürnberg, Gudrun, Neidhardt, John, Zeitz, Christina, Nürnberg, Peter, Schipper, Isaak, Berger, Wolfgang

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Sensitive Detection of Viral Transcripts in Human Tumor Transcriptomes por Schelhorn, Sven-Eric, Fischer, Matthias, Tolosi, Laura, Altmüller, Janine, Nürnberg, Peter, Pfister, Herbert, Lengauer, Thomas, Berthold, Frank

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A large deletion in RPGR causes XLPRA in Weimaraner dogs por Kropatsch, Regina, Akkad, Denis A., Frank, Matthias, Rosenhagen, Carsten, Altmüller, Janine, Nürnberg, Peter, Epplen, Jörg T., Dekomien, Gabriele

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