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    Research 331–360 of 1000+

    1. The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome Frontiers in Endocrinology · 2023
    2. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    3. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    4. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    5. Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria Journal of Investigative Dermatology · 2013 · 99 citations
    6. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006 · 74 citations
    7. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    8. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    9. Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes American Journal of Medical Genetics Part A · 2021 · 16 citations
    10. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    11. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    12. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    13. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    14. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year JCRPE · 2022 · 1 citations
    15. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    16. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025
    17. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    18. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    19. Epigenetic control of adult stem cell function Nature Reviews Molecular Cell Biology · 2016 · 179 citations
    20. Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering PLoS Biology · 2011 · 103 citations
    21. HRT for women with premature ovarian insufficiency: a comprehensive review Human Reproduction Open · 2017 · 61 citations
    22. Stem Cell Competition for Niche Occupancy: Emerging Themes and Mechanisms Stem Cell Reviews and Reports · 2010 · 13 citations
    23. Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets JDR Clinical & Translational Research · 2017 · 12 citations
    24. Hair Today BioScience · 2000
    25. The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered <i>Hoxc</i> gene expression in the ears Veterinary Dermatology · 2008 · 10 citations
    26. Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation Cell · 1993 · 578 citations
    27. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    28. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding Journal of Clinical Investigation · 2023 · 4 citations
    29. Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage Reproductive biomedicine online · 2017 · 3 citations
    30. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026