Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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Squash cytology of tanycytic ependymoma: A report of two cases.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Congenital heart defects in molecularly proven Kabuki syndrome patients.

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P2860

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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type

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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P1476

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

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P2093

Carlo Efisio Marras

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Davide Roma

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Francesca Diomedi-Camassei

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Lorenzo Figà-Talamanca

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Maria Cristina Digilio

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Paolo Palma

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Rossella Capolino

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P2860

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Diverse functions of PHD fingers of the MLL/KMT2 subfamily

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Unmasking Kabuki syndrome.

Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4

KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Kabuki syndrome: diagnostic and treatment considerations.

Descriptive epidemiology of ependymal tumours in the United States

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

about

P2860

P2860

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932