Search
for

    Sort by

    Research 61–90 of 1000+

    1. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    2. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    3. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    4. The Case | Bilateral kidney tumors and lung cysts Kidney international · 2013
    5. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    6. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    7. Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia Acta dermato-venereologica · 2023 · 1 citations
    8. The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion Scientific Reports · 2017 · 23 citations
    9. Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings International Journal of Dermatology · 2025
    10. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    11. Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity Pediatrics in review · 2021
    12. Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome Blood · 2016 · 4 citations
    13. 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia The Year book of endocrinology · 2008
    14. <i>NUDT15</i>,<i>FTO</i>, and<i>RUNX1</i>genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases Intestinal Research · 2017 · 40 citations
    15. Disease causing homozygous variants in the human hairless gene International Journal of Dermatology · 2015 · 7 citations
    16. THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW Era s journal of medical research · 2024
    17. MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia BMC Medical Genetics · 2019 · 12 citations
    18. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    19. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    20. Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy Experimental Dermatology · 2019 · 20 citations
    21. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    22. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants JAMA Dermatology · 2020 · 5 citations
    23. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    24. Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice bioRxiv (Cold Spring Harbor Laboratory) · 2018
    25. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    26. <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case Вопросы современной педиатрии · 2023
    27. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations
    28. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    29. Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans Forensic Science International: Genetics · 2015 · 36 citations
    30. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations