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Research 181–210 of 1000+
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- Comparison of Alopecia areata in Human and Nonhuman Mammalian Species
- Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
- A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
- Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
- Current Protocols: Alopecia Areata Mouse Models for Drug Efficacy and Mechanism Studies
- Finding models for skin diseases: successes and failures
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- Netherton Syndrome – Responding to Oral Retinoids
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
- Inborn Errors of Metabolism
- Pulmonary manifestations of Birt-Hogg-Dubé syndrome
- Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
- Metabolic dysfunction in female mice with disruption of 5α-reductase 1
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with <i>NUDT15</i> minor variant: A case report
- Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- A guide to diagnosis and management of hypertrichosis
- Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”