11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: 10.1186/s13039-024-00672-6

Classification: Medizin, Gesundheit

Event: Veröffentlichung

(where): Aachen

(who): Universitätsbibliothek der RWTH Aachen

(when): 2024

Creator: Amin, Asmaa K.
Krause, Jeremias
Eggermann, Thomas

DOI: 10.18154/RWTH-2024-04181

URN: urn:nbn:de:101:1-2502190040207.171420059532

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:34 AM CEST

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Associated

Amin, Asmaa K.
Krause, Jeremias
Eggermann, Thomas
Universitätsbibliothek der RWTH Aachen

Time of origin

2024

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11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

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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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11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

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Other Objects (12)

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

Silver-Russell syndrome: genetic basis and molecular genetic testing

Silver-Russell syndrome: genetic basis and molecular genetic testing

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Kagami-Ogata syndrome : an important differential diagnosis to Beckwith-Wiedemann syndrome

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

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

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

Silver-Russell syndrome: genetic basis and molecular genetic testing

Silver-Russell syndrome: genetic basis and molecular genetic testing

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Kagami-Ogata syndrome : an important differential diagnosis to Beckwith-Wiedemann syndrome

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

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

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

Silver-Russell syndrome: genetic basis and molecular genetic testing

Silver-Russell syndrome: genetic basis and molecular genetic testing

Molecular mechanisms of human overgrowth and use of omics in its diagnostics : chances and challenges

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Kagami-Ogata syndrome : an important differential diagnosis to Beckwith-Wiedemann syndrome

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

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

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