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    Research 421–450 of 1000+

    1. Trichothiodystrophy: Current Concepts Journal of Cutaneous Medicine and Surgery · 1996 · 5 citations
    2. GAPO syndrome – Report of a rare case and review Indian Journal of Case Reports · 2024 · 1 citations
    3. Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters JCEM Case Reports · 2024 · 1 citations
    4. Congenital erythropoietic porphyria five years observation with standard treatment: a case report Oxford medical case reports · 2024
    5. A Rare Case of Biotinidase Deficiancy Journal of medical science and clinical research · 2021
    6. Netherton Syndrome Harper's Textbook of Pediatric Dermatology · 2019
    7. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    8. Trichothiodystrophy -A Case Report- 中華皮膚科醫學雜誌 · 2003
    9. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    10. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    11. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    12. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    13. Vitamin D Dependent Rickets Type II with Alopecia Journal of Life Sciences · 2013 · 2 citations
    14. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    15. Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report Clinical Pediatric Endocrinology · 2025
    16. A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child Journal of evolution of medical and dental sciences · 2020
    17. A rare case of Vitamin D dependent rickets type II: a case report International journal of contemporary pediatrics · 2019
    18. ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT Journal of evolution of medical and dental sciences · 2012
    19. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    20. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    21. Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets International Journal of Contemporary Pediatrics · 2023
    22. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    23. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    24. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    25. Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus 1997 · 38 citations
    26. Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature International Journal of Dermatology · 2003 · 31 citations
    27. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    28. Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation The Journal of Dermatology · 1995 · 28 citations
    29. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012 · 15 citations
    30. Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function The Journal of Trace Elements in Experimental Medicine · 2000 · 6 citations