BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2041-1723
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes ; volume:9 ; number:1 ; day:20 ; month:11 ; year:2018 ; pages:1-15 ; date:12.2018
Nature Communications ; 9, Heft 1 (20.11.2018), 1-15, 12.2018
- Creator
-
Aref-Eshghi, Erfan
Bend, Eric G.
Hood, Rebecca L.
Schenkel, Laila C.
Carere, Deanna Alexis
Chakrabarti, Rana
Nagamani, Sandesh C. S.
Cheung, Sau Wai
Campeau, Philippe M.
Prasad, Chitra
Siu, Victoria Mok
Brady, Lauren
Tarnopolsky, Mark A.
Callen, David J.
Innes, A. Micheil
White, Susan M.
Meschino, Wendy S.
Shuen, Andrew Y.
Paré, Guillaume
Bulman, Dennis E.
Ainsworth, Peter J.
Lin, Hanxin
Rodenhiser, David I.
Hennekam, Raoul C.
Boycott, Kym M.
Schwartz, Charles E.
Sadikovic, Bekim
- Contributor
-
SpringerLink (Online service)
- DOI
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10.1038/s41467-018-07193-y
- URN
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urn:nbn:de:101:1-2018123021242470564666
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 11:03 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
- Aref-Eshghi, Erfan
- Bend, Eric G.
- Hood, Rebecca L.
- Schenkel, Laila C.
- Carere, Deanna Alexis
- Chakrabarti, Rana
- Nagamani, Sandesh C. S.
- Cheung, Sau Wai
- Campeau, Philippe M.
- Prasad, Chitra
- Siu, Victoria Mok
- Brady, Lauren
- Tarnopolsky, Mark A.
- Callen, David J.
- Innes, A. Micheil
- White, Susan M.
- Meschino, Wendy S.
- Shuen, Andrew Y.
- Paré, Guillaume
- Bulman, Dennis E.
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Hennekam, Raoul C.
- Boycott, Kym M.
- Schwartz, Charles E.
- Sadikovic, Bekim
- SpringerLink (Online service)
Other Objects (12)
Das Coffin-Siris-Syndrom
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
Klinische und genetische Analyse von 22 Patienten mit Coffin-Siris-Syndrom
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Coffin, Geraldine
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Siris
Das Coffin-Siris-Syndrom
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
Klinische und genetische Analyse von 22 Patienten mit Coffin-Siris-Syndrom
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Coffin, Geraldine
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Siris
Das Coffin-Siris-Syndrom
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
Klinische und genetische Analyse von 22 Patienten mit Coffin-Siris-Syndrom
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Coffin, Geraldine
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report