Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1868-7083

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome ; volume:12 ; number:1 ; day:11 ; month:5 ; year:2020 ; pages:1-7 ; date:12.2020
Clinical epigenetics ; 12, Heft 1 (11.5.2020), 1-7, 12.2020

Creator: Eßinger, Carla
Karch, Stephanie
Moog, Ute
Fekete, György
Lengyel, Anna
Pinti, Eva
Eggermann, Thomas
Begemann, Matthias

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13148-020-00856-y

URN: urn:nbn:de:101:1-2020071707283530001598

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

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Eßinger, Carla
Karch, Stephanie
Moog, Ute
Fekete, György
Lengyel, Anna
Pinti, Eva
Eggermann, Thomas
Begemann, Matthias
SpringerLink (Online service)

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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

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Other Objects (12)

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

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Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

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