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Author/Creator Koehler, Udo

1. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. Issue 8 (28th June 2011)

Authors:
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
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 8(2011)
Page Start:
513
Record Type:
Journal Article
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2. Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer. Issue 10 (14th December 2021)

Authors:
Scharf, Florentine; Leal Silva, Rafaela Magalhaes; Morak, Monika; Hastie, Alex; Pickl, Julia M A; Sendelbach, Kai; Gebhard, Christian; Locher, Melanie; Laner, Andreas; Steinke-Lange, Verena; Koehler, Udo; Holinski-Feder, Elke; Wolf, Dieter A
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
976
Record Type:
Journal Article
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5. Phenotypic spectrum associated with CASK loss-of-function mutations. Issue 11 (27th September 2011)

Authors:
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, Thoma...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 11(2011)
Page Start:
741
Record Type:
Journal Article
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6. The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?. Issue 9 (2nd August 2013)

Authors:
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
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2158
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?. Issue 9 (2nd August 2013)

Authors:
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
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2158
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗