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UnknownThe fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Not available
S-EPMC8127874 | biostudies-literature
UnknownClinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group.
Not available
S-EPMC10104757 | biostudies-literature
TranscriptomicsGene expression comparison between fibroblasts samples of control and SPOAN affected patients
Objective: Analyze expression patterns of genes located at linkage region of SPOAN syndrome (11q12-13), in order to identify genes differentially expressed in samples of SPOAN individuals compared to healthy controls. Fibroblast samples of 8 samples where analyzed: 4 SPOAN affected patients and 4 he...
ORGANISM(S): Homo sapiens 
2015-04-03 | E-GEOD-67527 | biostudies-arrayexpress
UnknownClinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Not available
S-EPMC12042808 | biostudies-literature
UnknownSARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study.
Not available
S-EPMC7995808 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
UnknownDeath following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic.
Not available
S-EPMC10364875 | biostudies-literature
UnknownTiming of surgery following SARS-CoV-2 infection: an international prospective cohort study.
Not available
S-EPMC8206995 | biostudies-literature
UnknownSARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study.
Not available
S-EPMC8652887 | biostudies-literature
UnknownEffect of Aspirin on Disability-free Survival in the Healthy Elderly.
Not available
S-EPMC6426126 | biostudies-literature
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