Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Molecular, clinical and neurop ...... syndrome and KMT2D mutations.

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Molecular, clinical and neurop ...... syndrome and KMT2D mutations.

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Molecular, clinical and neurop ...... syndrome and KMT2D mutations.

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Molecular, clinical and neurop ...... syndrome and KMT2D mutations.

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C Baumann

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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

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.

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

Kabuki make-up syndrome: a review.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

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298-305

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scholarly article

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10.1111/CGE.13010

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2017-03-14T00:00:00Z

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neuropsychology

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

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P2860

P2860

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

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