| Mosaicism and clinical genetics |
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| Introduction—A Pallister Jubilee |
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| The shodair medical genetics department—recent past and future developments |
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| The study of genetic syndromes in a rural setting |
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| Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome |
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| Pallister–Killian syndrome |
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| Pallister–Hall syndrome has gone the way of modern medical genetics |
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| The role of BAF (mSWI/SNF) complexes in mammalian neural development |
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| The <i>ARID1B</i> phenotype: What we have learned so far |
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| Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in <i>SMARCB1</i>, <i>SMARCA4</i>, <i>SMARCE1</i>, and <i>ARID1A</i> |
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| Phenotype and genotype in Nicolaides–Baraitser syndrome |
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| SWI/SNF chromatin remodeling complexes and cancer |
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| The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism |
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| Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing |
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| Clinical features, diagnostic criteria, and management of Coffin–Siris syndrome |
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| DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome |
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| Females with de novo aberrations in <i>PHF6</i>: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome |
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| Numerous BAF complex genes are mutated in Coffin–Siris syndrome |
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| Pontocerebellar hypoplasia |
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| Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology |
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| Polymicrogyria: A common and heterogeneous malformation of cortical development |
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| Agenesis of the corpus callosum: A clinical approach to diagnosis |
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| Introduction: Brain malformations |
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| Cerebellar hypoplasia: Differential diagnosis and diagnostic approach |
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| Genetic disorders associated with postnatal microcephaly |
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| The genetics of lissencephaly |
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| Congenital microcephaly |
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| Characterizing genetic variants for clinical action |
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| Leading the way to genomic medicine |
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| PG4KDS: A model for the clinical implementation of pre‐emptive pharmacogenetics |
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| Implementation of genomic medicine in a health care delivery system: A value proposition? |
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| Return of results: Ethical and legal distinctions between research and clinical care |
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| Implementation of pharmacogenetics: The University of Maryland personalized anti‐platelet pharmacogenetics program |
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| Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand |
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| Implementation of an electronic genomic and family health history tool in primary prenatal care |
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| Genomic medicine implementation: Learning by example |
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| Implementing individualized medicine into the medical practice |
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| Clinical pharmacogenetics implementation: Approaches, successes, and challenges |
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| Refining the structure and content of clinical genomic reports |
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| Adoption of a clinical pharmacogenomics implementation program during outpatient care–initial results of the University of Chicago “1,200 Patients Project” |
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