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    Research 241–270 of 1000+

    1. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    2. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    3. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation European Journal of Dermatology · 2010 · 11 citations
    4. 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
    5. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    6. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    7. Congenital erythropoietic porphyria five years observation with standard treatment: a case report Oxford medical case reports · 2024
    8. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    9. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    10. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    11. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    12. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    13. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    14. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    15. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    16. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    17. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025
    18. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    19. Papular atrichia International journal of research in dermatology · 2020
    20. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    21. Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings International Journal of Dermatology · 2025
    22. Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients Clinical Cosmetic and Investigational Dermatology · 2025
    23. 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
    24. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants JAMA Dermatology · 2020 · 5 citations
    25. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    26. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    27. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    28. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    29. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    30. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025