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    Research 271–300 of 1000+

    1. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    2. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    3. Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico Revista Dermatológica Centro Uraga · 2022
    4. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    5. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    6. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    7. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    8. Mutation des menschlichen hairless -Gens bei Atrichia universalis Der Hautarzt · 1998 · 2 citations
    9. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    10. Monilethrix International Journal of Trichology · 2013 · 4 citations
    11. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    12. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    13. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    14. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    15. Trichothiodystrophy: Current Concepts Journal of Cutaneous Medicine and Surgery · 1996 · 5 citations
    16. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    17. Atrichia with Papular Lesions: Dermoscopy to the Rescue Indian Journal of Dermatology · 2024
    18. Alopecia totalis in an infant Cosmoderma · 2023
    19. Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report Curēus · 2022 · 1 citations
    20. A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs The Journal of Clinical Endocrinology and Metabolism · 2007 · 150 citations
    21. Congenital adrenal hyperplasia Dermato-endocrinology · 2009 · 26 citations
    22. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    23. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    24. Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia Journal of Clinical Research in Pediatric Endocrinology · 2019 · 9 citations
    25. Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia Acta Dermatovenerologica Alpina Pannonica et Adriatica · 2018 · 5 citations
    26. Epicardial fat thickness in children with classic congenital adrenal hyperplasia Journal of Clinical Research in Pediatric Endocrinology · 2018
    27. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    28. Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report Cureus · 2025
    29. Atrichia congenita with papular lesions: A rare cause of pediatric alopecia TURKDERM · 2025
    30. 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