Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait ; volume:11 ; number:1 ; day:15 ; month:5 ; year:2024 ; pages:1-4 ; date:12.2024
Human genome variation ; 11, Heft 1 (15.5.2024), 1-4, 12.2024

Creator: Shimojima Yamamoto, Keiko
Itagaki, Yusuke
Tanaka, Kazuki
Okamoto, Nobuhiko
Yamamoto, Toshiyuki

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41439-024-00278-9

URN: urn:nbn:de:101:1-2407242122026.382190497953

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

Last update: 14.08.2025, 10:51 AM CEST

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Shimojima Yamamoto, Keiko
Itagaki, Yusuke
Tanaka, Kazuki
Okamoto, Nobuhiko
Yamamoto, Toshiyuki
SpringerLink (Online service)

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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

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Other Objects (12)

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

A novel deletion in KRT75L4 mediates the frizzle trait in a Chinese indigenous chicken

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

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Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

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Early-Onset Osteoporosis

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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

A novel deletion in KRT75L4 mediates the frizzle trait in a Chinese indigenous chicken

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