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2021
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Systematic update to the mammalian relative potency estimate database and development of best estimate toxic equivalency factors for dioxin-like compounds.
Not available
S-EPMC11059105
|
biostudies-literature
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Modeling the Effects of Policies that Restrict Tobacco Retail Outlets on Prenatal Smoke Exposure and Perinatal Health Care Utilization.
Not available
S-EPMC11390818
|
biostudies-literature
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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Not available
S-EPMC6817525
|
biostudies-literature
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Characteristics of undiagnosed diseases network applicants: implications for referring providers.
Not available
S-EPMC6106923
|
biostudies-literature
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886
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biostudies-literature
Cite
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Not available
S-EPMC10506156
|
biostudies-literature
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Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Not available
S-EPMC8664895
|
biostudies-literature
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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857
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biostudies-literature
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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Not available
S-EPMC8372083
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biostudies-literature
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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Not available
S-EPMC10506157
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biostudies-literature
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