Search
for

    Sort by

    Research 481–510 of 1000+

    1. Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium AFRICAN JOURNAL OF BIOTECHNOLOGY · 2011 · 2 citations
    2. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    3. Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report Curēus · 2022 · 1 citations
    4. Hemoglobinopathy and Systemic Lupus: A Rare Association Open Journal of Internal Medicine · 2019 · 1 citations
    5. Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment 2018 · 1 citations
    6. 5-Alpha-reductase deficiency in a Saudi "girl" Postgraduate medical journal · 1995 · 1 citations
    7. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    8. CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy Cureus · 2026
    9. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    10. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    11. Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates International Journal of Science and Research (IJSR) · 2026
    12. Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant Cureus · 2025
    13. A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler Journal of Saidu Medical College Swat · 2025
    14. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025
    15. Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report Cureus · 2025
    16. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    17. Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family Acta Scientific Paediatrics · 2023
    18. A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS PARIPEX INDIAN JOURNAL OF RESEARCH · 2023
    19. SEBACEOUS ADENITIS IN AKITA DOG – CASE REPORT 2022
    20. Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings Scholars Journal of Medical Case Reports · 2021
    21. Epicardial fat thickness in children with classic congenital adrenal hyperplasia Journal of Clinical Research in Pediatric Endocrinology · 2018
    22. Penis Endocrinology 2017
    23. Decades of progressive red and yellow nodules 2011
    24. Surgical approach of ectropion in lamellar ichthyosis Journal of The American Academy of Dermatology · 2010
    25. Ischemic onycholysis of the hands Journal of The American Academy of Dermatology · 2010
    26. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    27. Abstracts Journal of Cutaneous Medicine and Surgery · 1997
    28. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    29. Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010 · 45 citations
    30. Hair and Nail Relationship Skinmed · 2005 · 21 citations