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Research 541–570 of 1000+
- Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)
- PCSK9: From Nature’s Loss to Patient’s Gain
- Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
- Recently Identified Forms of Epidermolysis Bullosa
- Exome analysis for Cronkhite-Canada syndrome: A case report
- Chrousos syndrome: from molecular pathogenesis to therapeutic management
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Salt-losing tubulopathy and chronic dermatitis
- Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
- Clinical Snippets
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- <i>In vivo</i> alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
- AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
- BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
- Painful thickened skin on the soles of the feet
- Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia
- P‐35 Nonlethal junctional epidermolysis bullosa in a dog
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report
- 1379 Cell of origin contributes to the melanoma diversity
- An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
- Genomic Surveillance Reveals the Rapid Expansion of the XBB Lineage among Circulating SARS-CoV-2 Omicron Lineages in Southeastern Wisconsin, USA
- Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
- A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR‐AN Syndrome ‘‘Case Report’’
- Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
- Keratins and skin disease