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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
|
biostudies-literature
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Not available
S-EPMC5670038
|
biostudies-literature
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Two phase 3 trials of bapineuzumab in mild-to-moderate Alzheimer's disease.
Not available
S-EPMC4159618
|
biostudies-literature
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Ethnic and racial differences in children and young people with respiratory and neurological post-acute sequelae of SARS-CoV-2: an electronic health record-based cohort study from the RECOVER Initiative.
Not available
S-EPMC11753962
|
biostudies-literature
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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195
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biostudies-literature
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Not available
S-EPMC6562152
|
biostudies-literature
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Sex-specific genetic predictors of Alzheimer's disease biomarkers.
Not available
S-EPMC6280657
|
biostudies-literature
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093
|
biostudies-literature
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Not available
S-EPMC5294757
|
biostudies-literature
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The Influence of Cerebrospinal Fluid Abnormalities and APOE 4 on PHF-Tau Protein: Evidence From Voxel Analysis and Graph Theory.
Not available
S-EPMC6694441
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biostudies-literature
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