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Genomics
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Unknown
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Homo sapiens
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EGA
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ILLUMINA, Illumina HiSeq 2000
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Illumina HiSeq 2000
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Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
Not available
S-EPMC10646786
|
biostudies-literature
Cite
Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.
Not available
S-EPMC5536324
|
biostudies-literature
Cite
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
Not available
S-EPMC2818284
|
biostudies-literature
Cite
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Not available
S-EPMC12002656
|
biostudies-literature
Cite
Methylome analysis for spina bifida shows
SOX18
hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.
Not available
S-EPMC5064967
|
biostudies-literature
Cite
PIGO deficiency: palmoplantar keratoderma and novel mutations.
Not available
S-EPMC5445308
|
biostudies-literature
Cite
DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects.
Not available
S-EPMC4622610
|
biostudies-literature
Cite
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Not available
S-EPMC3367970
|
biostudies-literature
Cite
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.
Not available
S-EPMC9757547
|
biostudies-literature
Cite
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.
Not available
S-EPMC10435708
|
biostudies-literature
Cite
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