Search
for
Sort by
Research 241–270 of 789
- Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
- The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions
- Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
- Sjogren-Larsson Syndrome
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
- Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
- Skin Manifestations of Hypothyroidism-A Clinical Study
- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- [Cutaneous manifestations of malabsorption diseases (author's transl)].
- Collodion baby case series: the success of oral retinoic acid
- [Netherton's syndrome in two sisters].
- The urine as a diagnostic key for a homozygous EGFR mutation
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Trichothiodystrophy without associated neuroectodermal features in two siblings
- A STUDY ON CUTANEOUS MANIFESTATIONS OF HYPOTHYROIDISM IN A TERTIARY HOSPITAL IN SOUTH INDIA
- LEKTI: Netherton Syndrome and Atopic Dermatitis
- FilaggrinHigh melanomas exhibit active FGFR and allergic signatures with impaired GNA14 and Th1 signatures
- Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
- ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ
- Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
- Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
- Caracterización de signos cutáneos y sus anexos, en niños menores de 5 años con desnutrición severa
- Severe Hypernatremia as Presentation of Netherton Syndrome
- Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
- Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
- Genes of Congenital Dermatologic Disorders in Dogs—A Review