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Research 30 of 585
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- 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
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
- 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
- <i>De novo</i> mutations in monilethrix
- A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
- GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
- Stem Cell Competition for Niche Occupancy: Emerging Themes and Mechanisms
- Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
- Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
- 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
- Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
- Establishment of Tsc2-deficient rat embryonic stem cells
- Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
- CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Acne Syndromes and Mosaicism
- Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
- Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
- Somatic mutations distinguish melanocyte subpopulations in human skin
- Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- Connexin mutations in human disease
- Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype