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Research 721–750 of 1000+
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
- Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- LB789 Novel IFNγ aptamer TAGX-0003 protected hair follicles from immune privilege collapse and reversed Alopecia Areata like phenotype in humanized mouse model
- Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
- Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
- Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
- W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes
- TU55. EXPLORING THE GENOMIC RELATIONSHIP BETWEEN TWO MAJOR DETERMINANT PHENOTYPES OF PSYCHIATRIC DISORDERS: HUMAN GUT MICROBIOME AND SLEEP TRAITS
- Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
- A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
- RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
- Anti-androgen therapy in polyendocrine metabolic ovary syndrome (PMOS, formerly PCOS): efficacy, safety, and phenotype-oriented clinical decision-making
- Early onset androgenic alopecia: not a cosmetic problem but a sign of life time risk factors. Male phenotypic equivalent of polycystic ovarian syndrome: Is There a Male Phenotype of PCOS
- Weakly supervised learning of biomedical information extraction from curated data
- The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
- Care of the newborn with ichthyosis
- Dermal papilla cells and melanocytes response to physiological oxygen levels depends on their interactions
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
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- Dermal Papilla Cells and Melanocytes Response to Physiological Oxygen Levels Depends on Their Interactions
- Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region
- Diagnostic Challenges and Treatment Strategies in Neutrophilic Cicatricial Alopecias: A Narrative Review from Conventional Therapies to New Therapeutic Targets
- Skin deep: dermatologic challenges in PCOS through the female lifespan
- Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog
- Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
- Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study