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    Research 241–270 of 1000+

    1. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    2. Non-classic congenital adrenal hyperplasia Steroids · 2013 · 42 citations
    3. Treatment of unilateral congenital ptosis Current Opinion in Ophthalmology · 2013 · 33 citations
    4. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    5. Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis British Journal of Dermatology · 2013 · 23 citations
    6. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    7. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    8. Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia. Archives of Disease in Childhood · 1996 · 13 citations
    9. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia Indian Journal of Endocrinology and Metabolism · 2013 · 11 citations
    10. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    11. Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia) Journal für Kardiologie (Krause & Pachernegg GmbH) · 2010 · 8 citations
    12. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    13. The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia Experimental and Clinical Endocrinology & Diabetes · 2016 · 7 citations
    14. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    15. Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia 1992 · 7 citations
    16. Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment Endocrine · 2025 · 5 citations
    17. Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study Veterinary dermatology · 2018 · 5 citations
    18. Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency BMJ case reports · 2013 · 5 citations
    19. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    20. Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita Aesthetic Plastic Surgery · 2015 · 4 citations
    21. Aplasia cutis congenita on lumbosacral area Indian dermatology online journal · 2014 · 3 citations
    22. Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD) Journal of Steroid Biochemistry · 1990 · 3 citations
    23. Cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia Acta Cardiologica · 2019 · 2 citations
    24. A case of congenital pili multigemini Pediatric Dermatology · 2024 · 1 citations
    25. The Use of Human Dermal Papillae Conditioned Medium (HDPCM) on Aplasia Cutis Congenita in Lower Extremity due to Intrauterine Varicella Infection KnE life sciences · 2019 · 1 citations
    26. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    27. Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia. PubMed · 2015 · 1 citations
    28. 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
    29. EP1729 - LBA_ECE_1452 - When PCOS is not PCOS: a diagnostic pitfall of non-classical congenital adrenal hyperplasia European Journal of Endocrinology · 2026
    30. Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple Indian Dermatology Online Journal · 2026