Search
for
Sort by
Research 30 of 1000+
- Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
- Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
- CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
- Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- Acne Syndromes and Mosaicism
- Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
- The Genetics of Human Skin Disease
- Montagna Symposium 2014—Skin Aging: Molecular Mechanisms and Tissue Consequences
- Ichthyosis with confetti: clinics, molecular genetics and management
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Beyond Coincidence in Neurofibromatosis Type 1: Becker Nevus Adjacent to Plexiform Neurofibroma with Brachial Plexus Involvement and Integrated Mechanistic Illustration
- Oral Presentations
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Genetic Defects of Female Sexual Differentiation
- Disruption of FGF5 in Cashmere Goats Using CRISPR/Cas9 Results in More Secondary Hair Follicles and Longer Fibers
- Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
- Acquired trichomegaly of the eyelashes and hypertrichosis induced by bimatoprost
- Diseases of Periocular Hair
- Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
- Dermoscopy — 4th Conference of the Section of Dermoscopy and Other Skin Imaging Techniques (DiTOS) of the Polish Dermatological Society — Abstracts
- Modulating the stem cell niche for tissue regeneration
- The Rotterdam Study: 2018 update on objectives, design and main results
- Acne-associated syndromes: models for better understanding of acne pathogenesis
- Pathways to inflammation: acne pathophysiology
- Studying the genetic predisposing factors in the pathogenesis of acne vulgaris
- Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis
- What does acne genetics teach us about disease pathogenesis?