Search Results - Koehler, Udo
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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed sotos syndrome? by Dikow, Nicola (Author) , Maas, Bianca (Author) , Gaspar, Harald (Author) , Kreiss‐Nachtsheim, Martina (Author) , Engels, Hartmut (Author) , Kuechler, Alma (Author) , Garbes, Lutz (Author) , Netzer, Christian (Author) , Neuhann, Teresa M. (Author) , Koehler, Udo (Author) , Casteels, Kristina (Author) , Devriendt, Koen (Author) , Janssen, Johannes W. G. (Author) , Jauch, Anna (Author) , Hinderhofer, Katrin (Author) , Moog, Ute (Author) ,
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2
Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,
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3
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome by Morak, Monika (Author) , Koehler, Udo (Author) , Schackert, Hans Konrad (Author) , Steinke, Verena (Author) , Royer-Pokora, Brigitte (Author) , Schulmann, Karsten (Author) , Kloor, Matthias (Author) , Höchter, Wilhelm (Author) , Weingart, Josef (Author) , Keiling, Cortina (Author) , Massdorf, Trisari (Author) , Holinski-Feder, Elke (Author) ,
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4
Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,
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Related Subjects
epigenetics
molecular genetics
CASK
Lynch syndrome
NSD1
Sotos syndrome
X linked mental retardation
academic medicine
cancer: colon
chromosomal
clinical genetics
copy-number
developmental, genetics
diagnostics
diagnostics tests
epilepsy and seizures
gene dosage
gene rearrangement
genetic screening/counselling
hereditary colorectal cancer
intellectual disability
microarray
microcephaly
microduplication 5q35
neurology
neurosciences, neurology
other neurology
partial trisomy 5q
pontocerebellar hypoplasia
sequence inversion