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    Research 331–360 of 1000+

    1. 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
    2. 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
    3. 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
    4. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    5. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    6. Enanthem in Patients With COVID-19 and Skin Rash JAMA Dermatology · 2020 · 91 citations
    7. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    8. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    9. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    10. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    11. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    12. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    13. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    14. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    15. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    16. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat Differentiation · 2004 · 28 citations
    17. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    18. New familial association between ocular coloboma and loose anagen syndrome Clinical Genetics · 1995 · 19 citations
    19. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    20. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations
    21. 4 Vitamin D resistance Baillière's clinical endocrinology and metabolism · 1994 · 13 citations
    22. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    23. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    24. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    25. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    26. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    27. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    28. Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations British Journal of Dermatology · 2015 · 7 citations
    29. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    30. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations