Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

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Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

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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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Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

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Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

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Item

label

Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

@en

Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

@nl

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Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

@en

Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

@nl

P1476

Novel ZBTB24 Mutation Associat ...... et Inflammatory Bowel Disease.

@en

P2093

Judith R Kelsen

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Kathleen E Sullivan

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Marcella Devoto

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Máire A Conrad

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Noor Dawany

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P2860

The diagnostic approach to monogenic very early onset inflammatory bowel disease

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

IMA: an R package for high-throughput analysis of Illumina's 450K Infinium methylation data

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency.

Impact of exome sequencing in inflammatory bowel disease.

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease.

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

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2252-2255

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scholarly article

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10.1097/MIB.0000000000001280

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P478

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2017-10-11T00:00:00Z

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P698

29023266

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P921

Very early onset inflammatory bowel disease

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5685903

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