Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome ; volume:19 ; number:1 ; day:9 ; month:2 ; year:2024 ; pages:1-14 ; date:12.2024
Orphanet journal of rare diseases ; 19, Heft 1 (9.2.2024), 1-14, 12.2024
- Classification
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Medizin, Gesundheit
- Creator
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Pehlivan, Davut
Aras, Sukru
Glaze, Daniel G.
Ak, Muharrem
Suter, Bernhard
Motil, Kathleen J.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13023-024-03022-2
- URN
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urn:nbn:de:101:1-2404180656123.017003976285
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:53 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Pehlivan, Davut
- Aras, Sukru
- Glaze, Daniel G.
- Ak, Muharrem
- Suter, Bernhard
- Motil, Kathleen J.
- SpringerLink (Online service)
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Assessing the burden on caregivers of MECP2 duplication syndrome
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
Genetic analysis of a pedigree with MECP2 duplication syndrome in China
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
MECP2 duplication syndrome in a Chinese family
Assessing the burden on caregivers of MECP2 duplication syndrome
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
Genetic analysis of a pedigree with MECP2 duplication syndrome in China
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
MECP2 duplication syndrome in a Chinese family
Assessing the burden on caregivers of MECP2 duplication syndrome
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
Genetic analysis of a pedigree with MECP2 duplication syndrome in China
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2