Výsledky vyhledávání - Peter Nürnberg
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Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria Autor Barbara Kloeckener‐Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger
Vydáno 2008Artigo -
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Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human Autor Nico Ruf, Sylvia Bähring, Danuta Galetzka, Galyna Pliushch, Friedrich C. Luft, Peter Nürnberg, Thomas Haaf, Gavin Kelsey, Ulrich Zechner
Vydáno 2007Artigo -
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U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation Autor F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt
Vydáno 2011Artigo -
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Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement Autor Hölger Thiele, Masahiro Sakano, Hiroshi Kitagawa, Kazuyuki Sugahara, Anna Rajab, Wolfgang Höhne, Heide Ritter, Gundula Leschik, Peter Nürnberg, Stefan Mundlos
Vydáno 2004Artigo -
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Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression Autor Hölger Thiele, Marcel du Moulin, Katarzyna Barczyk, Christel George, Wolfram Schwindt, Gudrun Nürnberg, Michael Frosch, Gerhard Kurlemann, Johannes Roth, Peter Nürnberg, Frank Rutsch
Vydáno 2010Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Mutation
Internal medicine
Phenotype
Missense mutation
Cell biology
Exome sequencing
Cancer research
Genome
Pathology
Neuroscience
Computational biology
Genotype
Cancer
Immunology
Single-nucleotide polymorphism
Disease
Oncology
Locus (genetics)
Allele
Bioinformatics
Epilepsy
Exome
Disease gene identification
Endocrinology
Cilium
DNA