نتائج البحث - Udo Koehler
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1
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome حسب Monika Morak, Udo Koehler, Hans K. Schackert, Verena Steinke, Brigitte Royer‐Pokora, Karsten Schulmann, Matthias Kloor, W. Höchter, J. Weingart, C. Keiling, Trisari Massdorf, Elke Holinski‐Feder
منشور في 2011Artigo -
2
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU حسب Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot
منشور في 2017Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Allele
Chromosome
Corpus callosum
DNA mismatch repair
DNA repair
Germline mutation
Haploinsufficiency
Intellectual disability
Lynch syndrome
MLH1
Microcephaly
Microdeletion syndrome
Microsatellite
Microsatellite instability
Mutation
Neuroscience
PMS2
Penetrance
Phenotype
Subtelomere