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Research 30 of 594
- Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
- Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
- CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- The Sebaceous Gland - Friend or Foe?
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
- 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
- The Case | Bilateral kidney tumors and lung cysts
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- Updates from the British Association of Dermatologists 91st Annual Meeting, 5-7 July 2011, London, U.K.
- Pulmonary manifestations of Birt-Hogg-Dubé syndrome
- Tracking adult stem cells
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
- Genetic Defects of Female Sexual Differentiation
- 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
- Genetic Fate Mapping Using Site-Specific Recombinases
- Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
- Montagna Symposium 2015: Harnessing Stem Cells to Reveal Novel Skin Biology and Disease Treatments
- One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions