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2025
(3)
2024
(3)
2023
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2011
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Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results.
Not available
S-EPMC11108785
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biostudies-literature
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989
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biostudies-literature
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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095
|
biostudies-literature
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Not available
S-EPMC11533975
|
biostudies-literature
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ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708
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biostudies-literature
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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Not available
S-EPMC12328722
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biostudies-literature
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The National Lung Screening Trial: overview and study design.
Not available
S-EPMC3009383
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biostudies-literature
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Plasma AR Alterations and Timing of Intensified Hormone Treatment for Prostate Cancer: the STAMPEDE Phase 3 Randomized Clinical Trial.
Not available
S-EPMC11869088
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biostudies-literature
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