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    Research 691–720 of 1000+

    1. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    2. Enanthem in Patients With COVID-19 and Skin Rash JAMA Dermatology · 2020 · 91 citations
    3. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    4. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    5. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat Differentiation · 2004 · 28 citations
    6. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    7. New familial association between ocular coloboma and loose anagen syndrome Clinical Genetics · 1995 · 19 citations
    8. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations
    9. 4 Vitamin D resistance Baillière's clinical endocrinology and metabolism · 1994 · 13 citations
    10. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    11. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    12. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    13. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    14. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    15. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    16. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    17. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    18. Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    19. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    20. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    21. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000
    22. Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report Journal of Chittagong Medical College Teachers Association · 2026
    23. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    24. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Clinical and Experimental Pediatrics · 2025
    25. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice bioRxiv (Cold Spring Harbor Laboratory) · 2024
    26. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    27. Evaluation of hair structural abnormalities in children with different neurological diseases The Turkish Journal of Pediatrics · 2022
    28. 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin 2019
    29. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    30. Woolly Hair in Two Siblings International Journal of Trichology · 2012