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    Research 451–480 of 1000+

    1. AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women Clinical & medical biochemistry · 2017
    2. Hormonal Control of Cardiac Action Potential Phase 1 Currents in the Brugada Syndrome Revista Argentina de Cardiología · 2014
    3. Type 2 Diabetes, Metabolic Syndrome and Lipid Metabolism S. Karger AG eBooks · 2014
    4. Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome Clinical and Experimental Ophthalmology · 2004 · 6 citations
    5. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    6. Dermatological Manifestations of Down's Syndrome Journal of cutaneous medicine and surgery · 2001 · 28 citations
    7. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    8. SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia Journal of the Endocrine Society · 2020
    9. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    10. Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report 2025
    11. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    12. 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation Journal of Investigative Dermatology · 2017
    13. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    14. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    15. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    16. Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report Serbian Journal of Dermatology and Venerology · 2016 · 2 citations
    17. Congenital atrichia associated with nevus flammeus: A rare association Indian dermatology online journal · 2014 · 2 citations
    18. Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS · 2017
    19. SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD The Pediatric Infectious Disease Journal · 1999 · 24 citations
    20. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    21. Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report Medicine and Pharmacy Reports · 2023
    22. Genes of Congenital Dermatologic Disorders in Dogs—A Review Folia veterinaria · 2021
    23. Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient Journal of Clinical Medicine · 2025
    24. Low-dose oral minoxidil in a case of short anagen syndrome Journal of Dermatological Treatment · 2025
    25. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    26. Characterization of an autoimmune condition associated with AEC syndrome 2016
    27. MENSTRUAL DISORDERS IN ADOLESCENTS Pediatric Clinics of North America · 1999 · 75 citations
    28. A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents Frontiers in Medicine · 2017 · 40 citations
    29. Trichoscopy in Hair Shaft Disorders Dermatologic Clinics · 2018 · 36 citations
    30. Secondary cicatricial and other permanent alopecias Dermatologic Therapy · 2008 · 20 citations