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    Research 211–240 of 1000+

    1. Congenital and Hereditary Skin Diseases 2018
    2. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    3. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    4. 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
    5. Management of pregnancy in a carrier of the Donohue mutation Prenatal Diagnosis · 2009
    6. Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association Nepalese journal of ophthalmology · 2015 · 5 citations
    7. 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
    8. Lanceolate hair-J (<i>lah<sup>J</sup> </i> ): A mouse model for human hair disorders Experimental dermatology · 2000 · 37 citations
    9. Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders Annals of Nutrition and Metabolism · 1977 · 18 citations
    10. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    11. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    12. [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns]. PubMed · 1998 · 6 citations
    13. Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities Clinical case reports · 2017 · 3 citations
    14. [Netherton's syndrome in two sisters]. PubMed · 2002 · 3 citations
    15. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    16. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025
    17. Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    18. Alopecia totalis in an infant Cosmoderma · 2023
    19. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021
    20. S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis The American Journal of Gastroenterology · 2020
    21. Clinical Snippets Journal of Investigative Dermatology · 2015
    22. Clinical Snippets Experimental Dermatology · 2015
    23. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    24. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    25. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    26. Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria International Journal of Clinical Obstetrics and Gynaecology · 2025
    27. Coexistence of Woolly Hair and Monilethrix: A Cases Study Mağallaẗ al-Muẖtar li-l-ʿulūm · 2021
    28. Prediction of male-pattern baldness from genotypes European Journal of Human Genetics · 2015 · 37 citations
    29. Genetic correlation analysis does not associate male pattern baldness with COVID-19 Journal of The American Academy of Dermatology · 2021 · 4 citations
    30. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations