Search
for

    Sort by

    Research 151–180 of 1000+

    1. PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in <i>ACTB</i> 2023
    2. Acrodermatitis enteropathica – diagnostic challenges Research Square (Research Square) · 2023
    3. LBODP010 A Case of Glucocorticoid Resistance Syndrome Journal of the Endocrine Society · 2022
    4. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    5. An Infant with Worsening Rash ˜The œjournal of applied laboratory medicine · 2018
    6. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    7. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    8. 837 From genotoxic stresses to skin damage: Distinct, novel mechanisms of skin and hair damage in chemo/radiation therapy Journal of Investigative Dermatology · 2017
    9. Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance Open Archive (Karolinska Institutet) · 2011
    10. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    11. Visualising Androgen Receptor Activity in Male and Female Mice PloS one · 2013 · 89 citations
    12. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review Endocrinología y nutrición · 2015
    13. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2025
    14. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    15. BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis British Journal of Dermatology · 2023
    16. G4, is a new transgenic mouse model for the polycystic ovaries syndrome 2019
    17. Can an in vitro hair drug model be developed using dermal papilla cells alone? Experimental dermatology · 2021 · 3 citations
    18. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    19. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    20. Employee engagement: el reto de trabajar juntos E-Deusto: conocimiento para ir por delante · 2007
    21. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia. PubMed · 2025
    22. Persistent Hypoglycemia and Macrosomia in a Newborn Pediatrics in Review · 2026
    23. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    24. The Cutaneous Inflammatory Response to Thermal Burn Injury in a Murine Model International Journal of Molecular Sciences · 2019 · 79 citations
    25. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    26. SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    27. Uncombable hair in a case of Zellweger syndrome – A new association Indian Dermatology Online Journal · 2023
    28. Androgens induce sebaceous differentiation in sebocyte cells expressing a stable functional androgen receptor 2015 · 31 citations
    29. Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome Medicine · 2020 · 5 citations
    30. Reproductive health screening for endometriosis, reduced ovarian reserve, polycystic ovary syndrome and the most common sexually transmitted diseases Medicinski pregled · 2024 · 1 citations