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Search Results - Kötting, Judith
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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections
by
Kathiravel, Ushanthine
,
Keyser, Britta
,
Hoffjan, Sabine
,
Kötting, Judith
,
Müller, Melanie
,
Sivalingam, Sugirthan
,
Bonin, Michael
,
Arslan-Kirchner, Mine
,
von Kodolitsch, Yskert
,
Binner, Priska
,
Scheffold, Thomas
,
Stuhrmann, Manfred
,
Waldmüller, Stephan
Published in
Molecular and cellular probes
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Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study
by
Campa, Daniele
,
Pardini, Barbara
,
Naccarati, Alessio
,
Vodickova, Ludmila
,
Novotny, Jan
,
Steinke, Verena
,
Rahner, Nils
,
Holinski-Feder, Elke
,
Morak, Monika
,
Schackert, Hans K
,
Görgens, Heike
,
Kötting, Judith
,
Betz, Beate
,
Kloor, Matthias
,
Engel, Christoph
,
Büttner, Reinhard
,
Propping, Peter
,
Försti, Asta
,
Hemminki, Kari
,
Barale, Roberto
,
Vodicka, Pavel
,
Canzian, Federico
Published in
BMC gastroenterology
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Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections
by
HOFFJAN, Sabine
,
WALDMÜLLER, Stephan
,
BLANKENFELDT, Wulf
,
KÖTTING, Judith
,
GEHLE, Petra
,
BINNER, Priska
,
EPPLEN, Joerg T
,
SCHEFFOLD, Thomas
Published in
European journal of human genetics : EJHG
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Unusual Charcot–Marie–Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero
by
Schneider‐Gold, Christiane
,
Kötting, Judith
,
Epplen, Jörg T.
,
Gold, Ralf
,
Gerding, Wanda M.
Published in
Muscle & nerve
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Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review
by
Kaufmann, Astrid
,
Vogt, Stefanie
,
Uhlhaas, Siegfried
,
Stienen, Dietlinde
,
Kurth, Ingo
,
Hameister, Horst
,
Mangold, Elisabeth
,
Kotting, Judith
,
Kaminsky, Elke
,
Propping, Peter
,
Friedl, Waltraut
,
Aretz, Stefan
Published in
The Journal of molecular diagnostics : JMD
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Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero ( MPZ/P 0 )
by
Zschüntzsch, Jana
,
Dibaj, Payam
,
Pilgram, Sara
,
Kötting, Judith
,
Gerding, Wanda M
,
Neusch, C
Published in
Journal of the neurological sciences
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Gene symbol: GJB1. Disease: Hereditary motor and sensory neuropathy type X?
by
Kötting, Judith
,
Roque Daniel, Carrero-Valenzuela
,
Bonet, Hilda Bibas
,
Epplen, Jörg Thomas
Published in
Human genetics
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Expanded HSAN4 phenotype associated with two novel mutations in NTRK1
by
Wieczorek, Stefan
,
Bergström, Jonas
,
Sääf, Maria
,
Kötting, Judith
,
Iwarsson, Erik
Published in
Neuromuscular disorders : NMD
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Gene symbol: GJB1. Disease: Hereditary motor and sensory neuropathy type X
by
Kötting, Judith
,
Roque Daniel, Carrero-Valenzuela
,
Abdala, Mirtha Esther
,
Epplen, Jörg Thomas
Published in
Human genetics
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Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero
by
Schneider-Gold, Christiane
,
Kötting, Judith
,
Epplen, Jörg T.
,
Gold, Ralf
,
Gerding, Wanda M.
Published in
Muscle & Nerve
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