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2025
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349
|
biostudies-literature
Cite
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195
|
biostudies-literature
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Not available
S-EPMC6216110
|
biostudies-literature
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Pain Coping Skills Training for Patients Receiving Hemodialysis: The HOPE Consortium Randomized Clinical Trial.
Not available
S-EPMC11791705
|
biostudies-literature
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WHO global research priorities for antimicrobial resistance in human health.
Not available
S-EPMC11543637
|
biostudies-literature
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The association between platelet transfusions and bleeding in critically ill patients with thrombocytopenia.
Not available
S-EPMC5974915
|
biostudies-literature
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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Not available
S-EPMC12539062
|
biostudies-literature
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De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Not available
S-EPMC7007577
|
biostudies-literature
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Association of Early Steroid Administration With Outcomes of Children Hospitalized for COVID-19 Without Multisystem Inflammatory Syndrome in Children.
Not available
S-EPMC9531079
|
biostudies-literature
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Second asymptomatic carotid surgery trial (ACST-2): a randomised comparison of carotid artery stenting versus carotid endarterectomy.
Not available
S-EPMC8473558
|
biostudies-literature
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