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UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
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S-EPMC9830697 | biostudies-literature
UnknownDetection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
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S-EPMC8372083 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
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S-EPMC7767569 | biostudies-literature
UnknownLoss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Not available
S-EPMC11451386 | biostudies-literature
UnknownDe Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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S-EPMC6699142 | biostudies-literature
UnknownMARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Not available
S-EPMC5670038 | biostudies-literature
UnknownDifferentiation of Prior SARS-CoV-2 Infection and Postacute Sequelae by Standard Clinical Laboratory Measurements in the RECOVER Cohort.
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S-EPMC11408082 | biostudies-literature
UnknownTree mode of death and mortality risk factors across Amazon forests.
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S-EPMC7652827 | biostudies-literature
UnknownImpact of COVID-19 Pandemic on Cardiovascular Testing in Asia: The IAEA INCAPS-COVID Study.
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S-EPMC9627847 | biostudies-literature
UnknownInternational Impact of COVID-19 on the Diagnosis of Heart Disease.
Not available
S-EPMC7836433 | biostudies-literature
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