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    Research 241–270 of 1000+

    1. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    2. 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
    3. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    4. A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease Turkish Journal of Cerebrovascular Diseases · 2025
    5. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    6. Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair 1996 · 36 citations
    7. Keratosis follicularis spinulosa decalvans in a family Journal of the American Academy of Dermatology · 2008 · 32 citations
    8. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    9. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    10. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    11. Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects The Journal of Clinical Endocrinology & Metabolism · 1986 · 65 citations
    12. Treatment of monilethrix with oral minoxidil JAAD case reports · 2016 · 37 citations
    13. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    14. Keratin 71 Mutations: From Water Dogs to Woolly Hair 2012 · 11 citations
    15. Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin Pediatric Dermatology · 2007 · 49 citations
    16. Ocular aspects in biotinidase deficiency Clinical and genetic original studies Ophthalmic Paediatrics and Genetics · 1987 · 12 citations
    17. Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Journal of Investigative Dermatology · 2017 · 10 citations
    18. Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix Jornal Brasileiro de Patologia e Medicina Laboratorial · 2018 · 1 citations
    19. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    20. An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings International Journal of Contemporary Pediatrics · 2022
    21. Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse Molecular genetics and genomics · 2004 · 12 citations
    22. Pili Annulati: A case series and proposal for classification Skin Appendage Disorders · 2026
    23. Moniletherix ˜The œPan African medical journal · 2013
    24. 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증 대한피부과학회지 · 2011
    25. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    26. Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix Experimental Dermatology · 2015 · 18 citations
    27. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    28. Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation Biochemical Journal · 2019 · 15 citations
    29. Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review Indian Journal of Dermatology · 2016 · 13 citations
    30. Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review International Journal of Trichology · 2012 · 13 citations