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    Research 241–270 of 1000+

    1. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    2. Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia. PubMed · 2015 · 1 citations
    3. Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis Hormones · 2014 · 1 citations
    4. EP1729 - LBA_ECE_1452 - When PCOS is not PCOS: a diagnostic pitfall of non-classical congenital adrenal hyperplasia European Journal of Endocrinology · 2026
    5. Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple Indian Dermatology Online Journal · 2026
    6. “Case Report : Early Congenital Syphilis” Journal of Comprehensive Science (JCS) · 2026
    7. Platelet-rich Plasma Injection and Lipofilling-assisted Hair Transplantation on Residual Scalp Alopecia Post Aplasia Cutis Congenita Verticis (ACCV) International Journal of Trichology · 2025
    8. Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report Cureus · 2025
    9. Delayed Diagnosis of Congenital Imperforate Hymen Resulting in Obstructing Hematometrocolpos 2025
    10. 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis Journal of Investigative Dermatology · 2024
    11. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    12. ALOPECIA TRIANGULAR CONGÉNITA BILATERAL EN UN NEONATO: REPORTE DE CASO LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN · 2024
    13. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    14. Trichoscopy of aplasia cutis congenita of the scalp in skin of color Journal of Cosmetic Dermatology · 2023
    15. Severe Hirsutism in Non Classic Congenital Adrenal Hyperplasia: A Case Report and Literature Review Open Access Macedonian Journal of Medical Sciences · 2020
    16. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    17. Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis 2012
    18. Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH) Journal of pediatric nursing · 2011
    19. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay PLoS Genetics · 2018 · 21 citations
    20. Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia The Journal of Dermatology · 2019 · 2 citations
    21. Alopecia triangularis congenita in combination with androgenetic alopecia Journal of The European Academy of Dermatology and Venereology · 2004 · 1 citations
    22. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    23. Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism American Journal of Case Reports · 2025
    24. Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome Journal of Dermatological Science · 2016
    25. Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy Journal of Pediatric Gastroenterology and Nutrition · 2009 · 26 citations
    26. Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia Journal of dermatology · 2011
    27. AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS Pediatric Research · 1977
    28. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil Journal of Dermatology · 2020 · 7 citations
    29. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    30. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026