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UnknownEvaluating GPT-4o in high-stakes medical assessments: performance and error analysis on a Chilean anesthesiology exam.
Not available
S-EPMC12560382 | biostudies-literature
UnknownNeonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
Not available
S-EPMC5378852 | biostudies-literature
TranscriptomicsOver-expression of CTR1 delta-300 alters element and transcription profiles in yeast
In an approach to generate Saccharomyces cerevisiae strains with increased intracellular copper amounts for technical applications we over-expressed the copper transporter CTR1 and a variant of CTR1 with a truncation in the C-terminus after the 300 amino acids (CTR1 delta-300). We determined the cop...
ORGANISM(S): Saccharomyces cerevisiae 
2014-01-28 | E-GEOD-44043 | biostudies-arrayexpress
UnknownSchaaf-Yang syndrome overview: Report of 78 individuals.
Not available
S-EPMC6585857 | biostudies-literature
UnknownA microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Not available
S-EPMC10081357 | biostudies-literature
UnknownA cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Not available
S-EPMC10415337 | biostudies-literature
UnknownHereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Not available
S-EPMC2841708 | biostudies-literature
UnknownMacrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of <i>PGAP2</i> Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
Not available
S-EPMC11919034 | biostudies-literature
TranscriptomicsTranscription profiling by array of the response of Arabidopsis cultivar Columbia etiolated seedlings and undifferentiated tissue culture cells to the spaceflight environment
We address a key baseline question of whether gene expression changes are induced by the orbital environment, and then we ask whether undifferentiated cells, cells presumably lacking the typical gravity response mechanisms, perceive spaceflight. Arabidopsis seedlings and undifferentiated cultured Ar...
ORGANISM(S): Arabidopsis thaliana 
2012-03-08 | E-MTAB-1009 | biostudies-arrayexpress
UnknownMEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Not available
S-EPMC3773516 | biostudies-literature
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