Neurobehavioral features in individuals with Kabuki syndrome.

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Neurobehavioral features in individuals with Kabuki syndrome.

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http://www.wikidata.org/entity/Q55497837

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Neurobehavioral features in individuals with Kabuki syndrome.

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Neurobehavioral features in individuals with Kabuki syndrome.

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Item

label

Neurobehavioral features in individuals with Kabuki syndrome.

@en

Neurobehavioral features in individuals with Kabuki syndrome.

@nl

prefLabel

Neurobehavioral features in individuals with Kabuki syndrome.

@en

Neurobehavioral features in individuals with Kabuki syndrome.

@nl

P1476

Neurobehavioral features in individuals with Kabuki syndrome.

@en

P2093

Cristina Caciolo

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Deny Menghini

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Giorgia Piccini

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Maria Cristina Digilio

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Stefano Vicari

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P2860

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

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.

Kabuki syndrome: a review study of three hundred patients.

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

Kabuki make-up syndrome: a review.

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.

P304

322-331

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P31

scholarly article

P356

10.1002/MGG3.348

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Marco Tartaglia

Francesca Lepri

P Alfieri

P577

2018-03-13T00:00:00Z

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P698

29536651

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P932

6014453

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