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UnknownPathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.
Not available
S-EPMC6418278 | biostudies-literature
UnknownEnding a diagnostic odyssey-The first case of Takenouchi-Kosaki syndrome in an African patient.
Not available
S-EPMC8077267 | biostudies-literature
UnknownThe clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Not available
S-EPMC10280004 | biostudies-literature
UnknownDNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.
Not available
S-EPMC12660993 | biostudies-literature
UnknownLarge-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Not available
S-EPMC4784393 | biostudies-literature
UnknownIsoform-specific imprinting of the human PEG1/MEST gene.
Not available
S-EPMC1288335 | biostudies-literature
UnknownBED-Craft for nanopore adaptive sampling: a tool for generating bed files with gene names as input data for enrichment sequencing.
Not available
S-EPMC11844088 | biostudies-literature
UnknownGene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Not available
S-EPMC11080608 | biostudies-literature
UnknownImprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.
Not available
S-EPMC1287191 | biostudies-literature
UnknownA Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.
Not available
S-EPMC7414221 | biostudies-literature
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