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UnknownImprovement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246.
Not available
S-EPMC6965199 | biostudies-literature
UnknownIdentification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Not available
S-EPMC7890299 | biostudies-literature
UnknownAlteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Not available
S-EPMC4553756 | biostudies-literature
UnknownPsychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.
Not available
S-EPMC9951542 | biostudies-literature
UnknownTownes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Not available
S-EPMC12583617 | biostudies-literature
UnknownSevere Phenotype in Patients with Large Deletions of NF1.
Not available
S-EPMC8231977 | biostudies-literature
UnknownXenopus: An in vivo model for studying skin response to ultraviolet B irradiation.
Not available
S-EPMC11520974 | biostudies-literature
UnknownComplete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.
Not available
S-EPMC5159772 | biostudies-literature
UnknownBurden of albinism: development and validation of a burden assessment tool.
Not available
S-EPMC6145119 | biostudies-literature
UnknownEffects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation.
Not available
S-EPMC4624846 | biostudies-literature
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