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Research 541–570 of 618
- Remarks on Perfection in Plastic Surgery of the Face
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
- Adverse Reactions to Biologic Medications Used in Allergy and Immunology Diseases
- Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors
- Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- A comprehensive genome-wide analysis for signatures of selection in goat (genus Capra) revealed new candidate genes for environmental adaptation and productive traits
- Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
- Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion
- A guide to diagnosis and management of hypertrichosis
- Stabilization of epithelial β-catenin compromises mammary cell fate acquisition and branching morphogenesis
- 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
- Dermatologic care of patients with differences of sex development
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- Hair Growth Regulation by Fibroblast Growth Factor 12 (FGF12)
- Outcomes of paediatric patients with chronic liver disease in early adulthood: A heterogeneous, but representative, regional cohort study
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Morphologic Markers of Acute and Chronic Stress in Child Abuse
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Identification of Epigenetic Regulator‐Associated Genes in Keloid Disease Through Integrated Bulk and Single‐Cell Transcriptomics With RT ‐ qPCR Validation
- A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL
- Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
- p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials
- Vitiligo and Its Mimics in Childhood: A Diagnostic Framework for Hypopigmented Disorders
- Unraveling Translational Insights into Systemic Multi-Organ Toxicity of Cytosine Arabinoside (Ara-C): A Systematic Review of Preclinical Animal Evidence
- Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism