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    Research 751–780 of 1000+

    1. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    2. Trichothiodystrophy -A Case Report- 中華皮膚科醫學雜誌 · 2003
    3. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    4. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    5. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    6. Vitamin D Dependent Rickets Type II with Alopecia Journal of Life Sciences · 2013 · 2 citations
    7. 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
    8. A rare case of Vitamin D dependent rickets type II: a case report International journal of contemporary pediatrics · 2019
    9. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    10. Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets International Journal of Contemporary Pediatrics · 2023
    11. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    12. Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus 1997 · 38 citations
    13. Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature International Journal of Dermatology · 2003 · 31 citations
    14. Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation The Journal of Dermatology · 1995 · 28 citations
    15. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012 · 15 citations
    16. 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
    17. Type II Vitamin D Dependent Rickets: A Case Report Journal of Nepal Paediatric Society · 1970 · 5 citations
    18. Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome Australasian Journal of Dermatology · 2018 · 1 citations
    19. Inherited Acrodermatitis Enteropathica Indian Journal of Paediatric Dermatology · 2025
    20. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    21. Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function The Journal of Trace Elements in Experimental Medicine · 2000
    22. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    23. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    24. Hereditary vitamin D rickets: a case series in a family 2014 · 6 citations
    25. Werner′s syndrome Indian Journal of Dermatology Venereology and Leprology · 2012 · 5 citations
    26. Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene Frontiers in endocrinology · 2021 · 3 citations
    27. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene Indian Journal of Dermatology Venereology and Leprology · 2023 · 2 citations
    28. Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II Journal of Nepal Paediatric Society · 2016 · 1 citations
    29. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    30. Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels Memorial University Research Repository (Memorial University) · 2016