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    Research 31–60 of 1000+

    1. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    2. Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report Dermatology Reports · 2025
    3. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    4. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    5. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    6. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    7. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    8. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    9. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    10. Curly : a new hair defect mutation in the SELH/bc mouse strain 2009
    11. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    12. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    13. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    14. Inherited Hairlessness: A Case Study of Familial Congenital Atrichia Curēus · 2023
    15. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    16. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    17. 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
    18. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    19. New familial association between ocular coloboma and loose anagen syndrome Clinical Genetics · 1995 · 19 citations
    20. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    21. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    22. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    23. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    24. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    25. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    26. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    27. Lanceolate hair-J (<i>lah<sup>J</sup> </i> ): A mouse model for human hair disorders Experimental dermatology · 2000 · 37 citations
    28. Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders Annals of Nutrition and Metabolism · 1977 · 18 citations
    29. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    30. Clinical Snippets Journal of Investigative Dermatology · 2015