Search
for

    Sort by

    Research 691–720 of 1000+

    1. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    2. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions Journal of cutaneous pathology · 2012 · 7 citations
    3. Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy JAAD Case Reports · 2019 · 4 citations
    4. <i>De novo</i> mutations in monilethrix Experimental Dermatology · 2003 · 26 citations
    5. <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology Journal of dermatology · 2020 · 9 citations
    6. Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association Nepalese journal of ophthalmology · 2015 · 5 citations
    7. P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma JCEM case reports · 2024
    8. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix Journal of Medical Genetics · 2005 · 79 citations
    9. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    10. Monilethrix, a rare inherited hair shaft disorder in siblings Indian dermatology online journal · 2014 · 4 citations
    11. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    12. Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China Journal of the American Academy of Dermatology · 2013 · 3 citations
    13. A 40-Year-Old Woman With Facial Papules and Flank Pain Archives of Pathology & Laboratory Medicine · 2006 · 2 citations
    14. ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India Indian dermatology online journal · 2018 · 1 citations
    15. Androgenic alopecia and differential diagnoses of alopecia University of Zadar Institutional Repository · 2023
    16. Clinical cases of Darier-White follicular dyskeratosis Medičnì perspektivi · 2022
    17. Loose anagen syndrome in one identical twin girl. PubMed · 2021
    18. Loose Anagen Syndrome 2019
    19. Hair Anomalies in a 6-Year-Old Girl Case reports in clinical medicine · 2016
    20. Hair dysplasias 2015
    21. The Case | Bilateral kidney tumors and lung cysts Kidney international · 2013
    22. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    23. Delayed Puberty Pediatrics in Review · 2010 · 21 citations
    24. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder Indian dermatology online journal · 2013 · 12 citations
    25. Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings Indian Journal of Dermatology Venereology and Leprology · 2012 · 9 citations
    26. Baker′s dozen on the scalp: An interesting case of multiple trichilemmal cyst Journal of Cutaneous and Aesthetic Surgery · 2014 · 5 citations
    27. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    28. Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man International Journal of Dermatology · 2011 · 2 citations
    29. Corneodesmosin: Structure, Function and Involvement in Pathophysiology The Open Dermatology Journal · 2010 · 2 citations
    30. Hair That Is Difficult to Manage in a Hispanic Girl Skin appendage disorders · 2017 · 1 citations