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    Research 511–540 of 1000+

    1. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants JAMA Dermatology · 2020 · 5 citations
    2. Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study Veterinary dermatology · 2018 · 5 citations
    3. An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis British journal of ophthalmology · 2001 · 3 citations
    4. Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient Journal of dermatology · 2013 · 2 citations
    5. Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis Journal of dermatology · 2020 · 1 citations
    6. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    7. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    8. Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report Dermatology Reports · 2025
    9. 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis Journal of Investigative Dermatology · 2024
    10. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    11. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    12. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    13. Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case Journal of dermatology · 2023
    14. Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations Journal of cosmetic dermatology · 2022
    15. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    16. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    17. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    18. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    19. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    20. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations
    21. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    22. Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix International Journal of Dermatology · 2015 · 8 citations
    23. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    24. Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis Pediatric dermatology · 2011 · 2 citations
    25. Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study Journal of Tissue Viability · 2020 · 7 citations
    26. Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2020
    27. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    28. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    29. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    30. Enanthem in Patients With COVID-19 and Skin Rash JAMA Dermatology · 2020 · 91 citations