Search
for

    Sort by

    Research 121–150 of 1000+

    1. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    2. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Clinical and Experimental Pediatrics · 2025
    3. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice bioRxiv (Cold Spring Harbor Laboratory) · 2024
    4. Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother SAGE Open Medical Case Reports · 2024
    5. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    6. Inherited Hairlessness: A Case Study of Familial Congenital Atrichia Curēus · 2023
    7. Evaluation of hair structural abnormalities in children with different neurological diseases The Turkish Journal of Pediatrics · 2022
    8. A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions IP Indian journal of clinical and experimental dermatology · 2022
    9. Clinical report of a Holstein's calf with ichthyosis. Veterinary research forum · 2021
    10. 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin 2019
    11. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    12. Disorders of Keratinization 2014
    13. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    14. Curly : a new hair defect mutation in the SELH/bc mouse strain 2009
    15. Research Snippets British Journal of Dermatology · 2005
    16. Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico Revista Dermatológica Centro Uraga · 2022
    17. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    18. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    19. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    20. When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman The Neurologist · 2022 · 3 citations
    21. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    22. Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair 1996 · 36 citations
    23. Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Journal of Investigative Dermatology · 2017 · 10 citations
    24. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    25. Atrichia With Papular Lesions Archives of Dermatology · 1986 · 32 citations
    26. A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease Turkish Journal of Cerebrovascular Diseases · 2025
    27. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    28. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    29. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    30. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis The Journal of Dermatology · 2013 · 6 citations