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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Not available
S-EPMC6037130
|
biostudies-literature
Cite
eCLIPs bifurcation remodeling system for treatment of wide neck bifurcation aneurysms with extremely low dome-to-neck and aspect ratios: a multicenter experience.
Not available
S-EPMC8053345
|
biostudies-literature
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Physician Experiences and Understanding of Genomic Sequencing in Oncology.
Not available
S-EPMC5810555
|
biostudies-literature
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Prevalence and architecture of de novo mutations in developmental disorders.
Not available
S-EPMC6016744
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biostudies-literature
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Not available
S-EPMC6218476
|
biostudies-literature
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Not available
S-EPMC10760965
|
biostudies-literature
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Not available
S-EPMC6556837
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biostudies-literature
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Not available
S-EPMC7719027
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biostudies-literature
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SCN1A
epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Not available
S-EPMC5589790
|
biostudies-literature
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Comparative effectiveness of immediate antiretroviral therapy versus CD4-based initiation in HIV-positive individuals in high-income countries: observational cohort study.
Not available
S-EPMC4643831
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biostudies-literature
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