Search
for

    Sort by

    Research 121–150 of 1000+

    1. Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice Journal of cell science · 2023 · 2 citations
    2. AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis bioRxiv (Cold Spring Harbor Laboratory) · 2023
    3. Insight into the pathogensis of polycystic ovarian syndrome Journal of genetic medicine · 2020
    4. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    5. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    6. Long non-coding RNA Xist contribution in systemic lupus erythematosus and rheumatoid arthritis Clinical Immunology · 2022 · 41 citations
    7. Expression and Function of Group IIE Phospholipase A2 in Mouse Skin 2016 · 26 citations
    8. Gene-knockout mice with abnormal epidermal and hair follicular development Journal of dermatological science · 1998 · 11 citations
    9. TONGUE, RED 2006
    10. Drug-induced male infertility: a real-world study using FAERS and EudraVigilance databases Frontiers in Pharmacology · 2026
    11. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    12. Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review International Journal of Trichology · 2012 · 13 citations
    13. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    14. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    15. Pregnancy, hair loss, and the pill. BMJ · 1971 · 23 citations
    16. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    17. Idiopathic hypoparathyroidism with extensive intracranial calcification in children Medicine · 2017 · 3 citations
    18. Anaesthetics and platelets. The BMJ · 1971 · 1 citations
    19. Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy Pituitary · 2006 · 13 citations
    20. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction Journal of Cell Science · 2009 · 87 citations
    21. Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin Human Molecular Genetics · 2008 · 48 citations
    22. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome European Journal of Pediatrics · 2013 · 15 citations
    23. Advances in Hair Diseases Advances in Dermatology · 2008 · 5 citations
    24. Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome Indian Journal of Paediatric Dermatology · 2025
    25. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    26. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    27. Disorders of ovulation Women's Health Medicine · 2006 · 2 citations
    28. Group IID, IIE, IIF and III secreted phospholipase A2s Biochimica and biophysica acta. Molecular and cell biology of lipids · 2018 · 23 citations
    29. Cutaneous manifestations of metabolic diseases: uncommon presentations Clinics in Dermatology · 2005 · 20 citations
    30. Australasian Society for Dermatology Research Meeting, May 2006 Journal of Investigative Dermatology · 2007