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    Research 301–330 of 1000+

    1. Atrichia with Papular Lesions: Dermoscopy to the Rescue Indian Journal of Dermatology · 2024
    2. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    3. Papular atrichia International journal of research in dermatology · 2020
    4. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    5. Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function The Journal of Trace Elements in Experimental Medicine · 2000
    6. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    7. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    8. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    9. Successful induction of oral tolerance in Netherton syndrome Allergologia et immunopathologia · 2011 · 11 citations
    10. Hereditary vitamin D rickets: a case series in a family 2014 · 6 citations
    11. Werner′s syndrome Indian Journal of Dermatology Venereology and Leprology · 2012 · 5 citations
    12. 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
    13. 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
    14. Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II Journal of Nepal Paediatric Society · 2016 · 1 citations
    15. Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings International Journal of Dermatology · 2025
    16. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    17. Congenital and Hereditary Skin Diseases 2018
    18. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    19. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    20. 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
    21. Management of pregnancy in a carrier of the Donohue mutation Prenatal Diagnosis · 2009
    22. 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
    23. Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders Annals of Nutrition and Metabolism · 1977 · 18 citations
    24. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    25. [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns]. PubMed · 1998 · 6 citations
    26. Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities Clinical case reports · 2017 · 3 citations
    27. [Netherton's syndrome in two sisters]. PubMed · 2002 · 3 citations
    28. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    29. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025
    30. Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024