Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: European Journal of Human Genetics, 30, 3, S. 384-388

Event: Veröffentlichung

(where): Augsburg

(who): Universität Augsburg

(when): 2022

Event: Veröffentlichung

(who): Springer Science and Business Media LLC

(when): 2022

Creator: Green, Timothy E.
Schimmel, Mareike
Schubert, Susanna
Lemke, Johannes R.
Bennett, Mark F.
Hildebrand, Michael S.
Berkovic, Samuel F.

DOI: 10.1038/s41431-021-01023-4

URN: urn:nbn:de:bvb:384-opus4-935992

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:50 AM CEST

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Associated

Green, Timothy E.
Schimmel, Mareike
Schubert, Susanna
Lemke, Johannes R.
Bennett, Mark F.
Hildebrand, Michael S.
Berkovic, Samuel F.
Universität Augsburg
Springer Science and Business Media LLC

Time of origin

2022

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Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

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Other Objects (12)

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

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Bi-allelic and tri-allelic 5-HTTLPR polymorphisms and triptan non-response in cluster headache

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

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