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    Research 271–300 of 1000+

    1. Netherton Syndrome Harper's Textbook of Pediatric Dermatology · 2019
    2. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    3. Trichothiodystrophy -A Case Report- 中華皮膚科醫學雜誌 · 2003
    4. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    5. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    6. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    7. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    8. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    9. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    10. Vitamin D Dependent Rickets Type II with Alopecia Journal of Life Sciences · 2013 · 2 citations
    11. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    12. 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
    13. A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child Journal of evolution of medical and dental sciences · 2020
    14. A rare case of Vitamin D dependent rickets type II: a case report International journal of contemporary pediatrics · 2019
    15. ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT Journal of evolution of medical and dental sciences · 2012
    16. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    17. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    18. Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets International Journal of Contemporary Pediatrics · 2023
    19. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    20. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    21. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    22. Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus 1997 · 38 citations
    23. Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature International Journal of Dermatology · 2003 · 31 citations
    24. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    25. Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation The Journal of Dermatology · 1995 · 28 citations
    26. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012 · 15 citations
    27. 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
    28. Type II Vitamin D Dependent Rickets: A Case Report Journal of Nepal Paediatric Society · 1970 · 5 citations
    29. Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome Australasian Journal of Dermatology · 2018 · 1 citations
    30. Inherited Acrodermatitis Enteropathica Indian Journal of Paediatric Dermatology · 2025