Search
for

    Sort by

    Research 30 of 1000+

    1. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    2. A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility* The Journal of Clinical Endocrinology & Metabolism · 1988 · 67 citations
    3. Keratosis follicularis spinulosa decalvans in a female Indian journal of dermatology, venereology, and leprology · 2011 · 17 citations
    4. Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This? Pediatric dermatology · 2005 · 5 citations
    5. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    6. Dissection of genetic variation and evidence for pleiotropy in male pattern baldness Nature Communications · 2018 · 58 citations
    7. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    8. Eruptive Vellus Hair Cyst International Journal of Dermatology · 1986 · 8 citations
    9. Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man International Journal of Dermatology · 2011 · 2 citations
    10. Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum Neurodegenerative Diseases · 2018 · 7 citations
    11. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    12. Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn Cureus · 2023 · 1 citations
    13. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    14. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    15. Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007 · 109 citations
    16. An overview on congenital alopecia in domestic animals Veterinary dermatology · 2006 · 32 citations
    17. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    18. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    19. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    20. Protoporphyrin IX: the Good, the Bad, and the Ugly Journal of Pharmacology and Experimental Therapeutics · 2015 · 138 citations
    21. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005 · 195 citations
    22. Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes Journal of Investigative Dermatology · 1998 · 169 citations
    23. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    24. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    25. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    26. Androgenetic Alopecia in Men: An Update On Genetics Indian Journal of Dermatology · 2024
    27. Alopecia and hirsutism* Clinical and Experimental Dermatology · 1982 · 6 citations
    28. Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding Genes · 2025
    29. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    30. The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome Frontiers in Endocrinology · 2023