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    Research 61–90 of 1000+

    1. [Genetic and biochemical aspects of keratin synthesis by hair follicles]. PubMed · 2007 · 10 citations
    2. Discovery of genes and proteins possibly regulating mean wool fibre diameter using cDNA microarray and proteomic approaches Scientific reports · 2020 · 6 citations
    3. Ribonucleic Acids Coding for the Keratin Complex of Hair 1981 · 5 citations
    4. Animal models of human skin disease Experimental Dermatology · 2004 · 4 citations
    5. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    6. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003 · 10 citations
    7. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016 · 8 citations
    8. PLCD1 and Pilar Cysts 2019 · 5 citations
    9. Molecular mechanisms of ectodermal dysplasia syndromes Työväentutkimus Vuosikirja · 2004 · 3 citations
    10. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    11. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    12. Research Snippets British Journal of Dermatology · 2005
    13. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    14. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    15. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    16. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nature Genetics · 2009 · 181 citations
    17. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    18. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    19. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    20. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    21. Serum Androgens and Genetic Linkage Analysis in Early Onset Androgenetic Alopecia Journal of Investigative Dermatology · 1999 · 32 citations
    22. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature Journal of endocrinological investigation · 2014 · 31 citations
    23. Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report Journal of the American Academy of Dermatology · 2011 · 14 citations
    24. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation American Journal of Medical Genetics - Part A · 2010 · 11 citations
    25. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    26. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    27. Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands Acta dermato-venereologica · 2017 · 4 citations
    28. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    29. Molecular Evolution and Protein Structure Variation of Dkk Family Genes · 2023 · 3 citations
    30. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations