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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. [electronic resource] by
- Morak, Monika
- Koehler, Udo
- Schackert, Hans Konrad
- Steinke, Verena
- Royer-Pokora, Brigitte
- Schulmann, Karsten
- Kloor, Matthias
- Höchter, Wilhelm
- Weingart, Josef
- Keiling, Cortina
- Massdorf, Trisari
- Holinski-Feder, Elke
Producer: 20111118
In:
Journal of medical genetics vol. 48
Availability: No items available.
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15.
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In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. [electronic resource] by
- Bulst, Stefanie
- Abicht, Angela
- Holinski-Feder, Elke
- Müller-Ziermann, Solvig
- Koehler, Udo
- Thirion, Christian
- Walter, Maggie C
- Stewart, Joanna D
- Chinnery, Patrick F
- Lochmüller, Hanns
- Horvath, Rita
Producer: 20090714
In:
Human molecular genetics vol. 18
Availability: No items available.
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16.
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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes. [electronic resource] by
- Morak, Monika
- Schaefer, Kerstin
- Steinke-Lange, Verena
- Koehler, Udo
- Keinath, Susanne
- Massdorf, Trisari
- Mauracher, Brigitte
- Rahner, Nils
- Bailey, Jessica
- Kling, Christiane
- Haeusser, Tanja
- Laner, Andreas
- Holinski-Feder, Elke
Producer: 20200717
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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17.
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. [electronic resource] by
- Czeschik, Johanna Christina
- Bauer, Peter
- Buiting, Karin
- Dufke, Claudia
- Guillén-Navarro, Encarna
- Johnson, Diana S
- Koehler, Udo
- López-González, Vanesa
- Lüdecke, Hermann-Josef
- Male, Alison
- Morrogh, Deborah
- Rieß, Angelika
- Tzschach, Andreas
- Wieczorek, Dagmar
- Kuechler, Alma
Producer: 20140717
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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18.
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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? [electronic resource] by
- Dikow, Nicola
- Maas, Bianca
- Gaspar, Harald
- Kreiss-Nachtsheim, Martina
- Engels, Hartmut
- Kuechler, Alma
- Garbes, Lutz
- Netzer, Christian
- Neuhann, Teresa M
- Koehler, Udo
- Casteels, Kristina
- Devriendt, Koen
- Janssen, Johannes W G
- Jauch, Anna
- Hinderhofer, Katrin
- Moog, Ute
Producer: 20140326
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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19.
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Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. [electronic resource] by
- Grabowski, Monika
- Mueller-Koch, Yvonne
- Grasbon-Frodl, Eva
- Koehler, Udo
- Keller, Gisela
- Vogelsang, Holger
- Dietmaier, Wolfgang
- Kopp, Reinhard
- Siebers, Ulrike
- Schmitt, Wolfgang
- Neitzel, Birgit
- Gruber, Maria
- Doerner, Christa
- Kerker, Brigitte
- Ruemmele, Petra
- Henke, Gabriele
- Holinski-Feder, Elke
Producer: 20060517
In:
Genetic testing vol. 9
Availability: No items available.
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20.
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Phenotypic spectrum associated with CASK loss-of-function mutations. [electronic resource] by
- Moog, Ute
- Kutsche, Kerstin
- Kortüm, Fanny
- Chilian, Bettina
- Bierhals, Tatjana
- Apeshiotis, Neophytos
- Balg, Stefanie
- Chassaing, Nicolas
- Coubes, Christine
- Das, Soma
- Engels, Hartmut
- Van Esch, Hilde
- Grasshoff, Ute
- Heise, Marisol
- Isidor, Bertrand
- Jarvis, Joanna
- Koehler, Udo
- Martin, Thomas
- Oehl-Jaschkowitz, Barbara
- Ortibus, Els
- Pilz, Daniela T
- Prabhakar, Prab
- Rappold, Gudrun
- Rau, Isabella
- Rettenberger, Günther
- Schlüter, Gregor
- Scott, Richard H
- Shoukier, Moonef
- Wohlleber, Eva
- Zirn, Birgit
- Dobyns, William B
- Uyanik, Gökhan
Producer: 20120210
In:
Journal of medical genetics vol. 48
Availability: No items available.
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