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Research 30 of 871
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Delivery of Tissue-Targeted Scalpels: Opportunities and Challenges for <i>In Vivo</i> CRISPR/Cas-Based Genome Editing
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
- Rejuvenation: an integrated approach to regenerative medicine
- Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Special collection on inward rectifying K<sup>+</sup> channels
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Biomedical applications of organoids in genetic diseases
- New frontiers in CRISPR/Cas9 delivery systems delivery for gene editing
- Non-viral delivery of the CRISPR/Cas system: DNA<i>versus</i>RNA<i>versus</i>RNP
- Poster Presentations
- Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
- Prematüre Pubarş Olgularının Değerlendirilmesi: Tek Merkez Deneyimi
- Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
- FOXN1 deficient nude severe combined immunodeficiency
- Evaluation of Premature Pubarche Cases: A Single CenterExperience
- Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
- Hair Loss in Children, Etiologies, and Treatment
- Two Cases of Linear Alopecia on the Occipital Scalp
- Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male
- Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
- Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
- Vitamins
- Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
- Oral Manifestations of Hematologic and Nutritional Diseases
- DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE