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    Research 91–120 of 1000+

    1. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    2. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    3. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability Nature Genetics · 2018 · 94 citations
    4. Enanthem in Patients With COVID-19 and Skin Rash JAMA Dermatology · 2020 · 91 citations
    5. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    6. 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
    7. 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
    8. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    9. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    10. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    11. Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children Archives of Dermatology · 1992 · 55 citations
    12. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13 Human Molecular Genetics · 1995 · 54 citations
    13. A Small Deletion Hotspot in the Type II Keratin Gene<i>mK6irs1/Krt2-6g</i>on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (<i>Ca</i>) Mutation Genetics · 2003 · 53 citations
    14. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    15. Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes Experimental Dermatology · 2019 · 44 citations
    16. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    17. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    18. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    19. Prediction of male-pattern baldness from genotypes European Journal of Human Genetics · 2015 · 37 citations
    20. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    21. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000 · 32 citations
    22. Atrichia With Papular Lesions Archives of Dermatology · 1986 · 32 citations
    23. Familial Nonmembranous Aplasia Cutis of the Scalp Pediatric dermatology · 2005 · 30 citations
    24. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    25. 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
    26. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat Differentiation · 2004 · 28 citations
    27. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
    28. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    29. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    30. Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression Experimental Dermatology · 1998 · 26 citations