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UnknownExpanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Not available
S-EPMC9546324 | biostudies-literature
UnknownA mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
Not available
S-EPMC5541734 | biostudies-literature
UnknownFrom Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Not available
S-EPMC10606760 | biostudies-literature
UnknownA deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Not available
S-EPMC9206304 | biostudies-literature
UnknownWork-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Not available
S-EPMC10742781 | biostudies-literature
UnknownADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Not available
S-EPMC12714143 | biostudies-literature
ProteomicstRNA as an assembly chaperone for a macromolecular transcription-processing complex
tRNAs are widely recognized for their role in translation. Here we describe a previously unidentified function of tRNA as an assembly chaperone. During poxviral infection tRNAGln/Arg lacking the anticodon mcm5s2U modification is specifically recruited from the cellular tRNA pool to a multi-subunit p...
ORGANISM(S): Homo sapiens (Human) Vaccinia virus GLV-1h68 
2025-11-24 | PXD057359 | Pride
Ap-ms Flag-ip Vaccina virus 
UnknownA Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Not available
S-EPMC9497687 | biostudies-literature
UnknownA generic protocol for the affinity-purification of native macromolecular complexes from poxvirus-infected cells.
Not available
S-EPMC8792428 | biostudies-literature
UnknownPerformance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Not available
S-EPMC9913441 | biostudies-literature
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