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Research 31–60 of 1000+
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Keratin gene mutations in disorders of human skin and its appendages
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
- The color of skin: white diseases of the skin, nails, and mucosa
- Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
- Monilethrix – Case report of a rare disease
- Male infertility and genitourinary birth defects: there is more than meets the eye
- Endogenous/exogenous stimuli‐responsive smart hydrogels for diabetic wound healing
- Clinical and metabolic implications of obesity in prostate cancer: is testosterone a missing link?
- A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
- Study Of Biochemical Factors And Knowledge, Attitude, Practice In Patients Of Premature Greying Of Hair (Preprint)
- Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
- Monilethrix in three generations
- Polycystic Ovary Syndrome in the Context of Pituitary Adenomas: Prevalence, Pathophysiology and Clinical Management
- Structural and epistatic regulatory variants cause hallmark white spotting in cattle
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications
- A Holistic Approach to Unravel Keloid Pathogenesis and Optimize Therapeutic Outcomes
- Male androgenetic alopecia
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
- Role of testosterone in SARS-CoV-2 infection: A key pathogenic factor and a biomarker for severe pneumonia
- Platelet-Rich Plasma: New Performance Understandings and Therapeutic Considerations in 2020
- Association of Hypertension and Hyperaldosteronism with Androgenetic Alopecia in Male Patients: Case control study. (Preprint)
- Variables affecting the potential efficacy of PRP in providing chronic pain relief
- Variable Clinical Features of Temporal Triangular Alopecia