Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

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Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases.Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

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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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2017年學術文章

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2017年學術文章

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name

Histone Lysine Methylases and ...... Human Developmental Disorders.

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Histone Lysine Methylases and ...... Human Developmental Disorders.

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Histone Lysine Methylases and ...... Human Developmental Disorders.

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Histone Lysine Methylases and ...... Human Developmental Disorders.

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Histone Lysine Methylases and ...... Human Developmental Disorders.

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Histone Lysine Methylases and ...... Human Developmental Disorders.

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P1476

Histone Lysine Methylases and ...... Human Developmental Disorders

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P2093

Amy Goldman

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Anna Lehman

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Bronwyn Kerr

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Bruno Dallapiccola

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Clinical Assessment of the Uti ...... on as a Service (CAUSES) Study

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Deciphering Developmental Disorders (DDD) Study

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Dhavendra Kumar

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

Harinder Gill

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I Karen Temple

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

Jenny Morton

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P2860

The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3

PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex

Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases

Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Targeted capture and massively parallel sequencing of 12 human exomes

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

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175-187

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scholarly article

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10.1016/J.AJHG.2017.11.013

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English

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102

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William G. Newman

Víctor Faundes

Rachel Horton

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2017-12-21T00:00:00Z

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29276005

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5778085

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

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P2860

P2860

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

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P1476

P2093

P2860

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P356

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P478

P50

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