Search
for

    Sort by

    Research 151–180 of 485

    1. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    2. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    3. Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    4. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    5. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
    6. The nude gene and the skin Experimental Dermatology · 2001 · 41 citations
    7. The role of WNT10B in physiology and disease: A 10-year update Frontiers in Cell and Developmental Biology · 2023 · 27 citations
    8. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    9. PCSK9: From Nature’s Loss to Patient’s Gain Circulation · 2024
    10. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    11. Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2025 · 1 citations
    12. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    13. The Critical Roles of Serum/Glucocorticoid-Regulated Kinase 3 (SGK3) in the Hair Follicle Morphogenesis and Homeostasis American Journal of Pathology · 2006 · 9 citations
    14. Hairless controls hair fate decision via Wnt/β–catenin signaling Biochemical and Biophysical Research Communications · 2017 · 6 citations
    15. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    16. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    17. Editors' Picks Journal of Investigative Dermatology · 2007
    18. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    19. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets Bone Research · 2016 · 7 citations
    20. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    21. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    22. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    23. Keratins and skin disease 2015 · 69 citations
    24. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    25. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    26. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    27. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    28. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    29. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    30. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations