Resultados da pesquisa - Jörg Seidel
- A mostrar 1 - 5 resultados de 5
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Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome Por Simone Schiller, Stephanie Spranger, Birgit Schechinger, Maki Fukami, Sabine Merker, Stenvert L. S. Drop, J. Tröger, Hans Knoblauch, Jürgen Kunze, Jörg Seidel, Gudrun Rappold
Publicado em 2000Artigo -
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DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency Por Mark O’Driscoll, Karen Cerosaletti, Pierre-M Girard, Yan Dai, Markus Stümm, Boris Kysela, Betsy Hirsch, Andrew R. Gennery, S.E. Palmer, Jörg Seidel, Richard A. Gatti, Raymonda Varon, Marjorie A. Oettinger, Heidemarie Neitzel, Penny A. Jeggo, Patrick Concannon
Publicado em 2001Artigo -
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Next-generation sequencing in X-linked intellectual disability Por Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl‐Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Rieß, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Rieß, Peter Bauer
Publicado em 2015Artigo -
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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome Por Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, William G. Newman, Christopher Blanck, Martijn H. Breuning, Leo P. ten Kate, P. D. Maaswinkel-Mooy, Beate Mitulla, Jörg Seidel, Susan J. Kirkpatrick, Richard M. Pauli, David S. Wargowski, Koenraad Devriendt, Willem Proesmans, Orazio Gabrielli, Giovanni V. Coppa, Eveline Wesby–van Swaay, Richard C. Trembath, Albert Schinzel, William Reardon, E Seemanová, Wolfgang Engel
Publicado em 1999Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Gene
Genetics
Mutation
Endocrinology
Missense mutation
Molecular biology
Nonsense mutation
Phenotype
Short stature
ATRX
Allele
Allelic heterogeneity
Amino acid
Arginine
Ataxia-telangiectasia
Biochemistry
Bioinformatics
Brachydactyly
Cell biology
Cohort
DNA
DNA damage
DNA ligase
DNA repair
DNA replication
DNA sequencing
Enzyme
Exon
Furin