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(49)
Transcriptomics
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Homo sapiens
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biostudies-arrayexpress
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NextSeq 550
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2026
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RNA-seq of coding RNA from single cells
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Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Not available
S-EPMC1852730
|
biostudies-literature
Cite
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.
Not available
S-EPMC11431494
|
biostudies-literature
Cite
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.
Not available
S-EPMC12385400
|
biostudies-literature
Cite
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Not available
S-EPMC5005468
|
biostudies-literature
Cite
Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.
Not available
S-EPMC12608818
|
biostudies-literature
Cite
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
Not available
S-EPMC3083629
|
biostudies-literature
Cite
A Review on Coordination Properties of Thiol-Containing Chelating Agents Towards Mercury, Cadmium, and Lead.
Not available
S-EPMC6767255
|
biostudies-literature
Cite
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Not available
S-EPMC4562368
|
biostudies-literature
Cite
Arsenic Toxicity: Molecular Targets and Therapeutic Agents.
Not available
S-EPMC7072575
|
biostudies-literature
Cite
Chelating Agents in Soil Remediation: A New Method for a Pragmatic Choice of the Right Chelator.
Not available
S-EPMC7667266
|
biostudies-literature
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