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    Research 121–150 of 1000+

    1. Ichthyosis with confetti: a rare diagnosis and treatment plan BMJ case reports · 2014 · 7 citations
    2. Endo&Art why Diana is depicted with mild androgenic alopecia? Journal of Endocrinological Investigation · 2021 · 1 citations
    3. Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review · 2025
    4. Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype International journal of molecular sciences · 2023
    5. Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report Cureus · 2025
    6. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    7. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    8. Polycystic Ovary Syndrome and Its Differential Diagnosis Obstetrical & Gynecological Survey · 2006 · 42 citations
    9. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    10. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    11. Congenital erythropoietic porphyria five years observation with standard treatment: a case report Oxford medical case reports · 2024
    12. Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique American Journal of Dermatopathology · 1997 · 17 citations
    13. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    14. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    15. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    16. Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia British Journal of Dermatology · 2007 · 17 citations
    17. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    18. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    19. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    20. Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument Neuropediatrics · 2004 · 80 citations
    21. 农民致富的领路人——记“省青年星火带头人标兵”叶明 福建农业 · 2004
    22. P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases European Journal of Paediatric Neurology · 2015
    23. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    24. Inherited Hairlessness: A Case Study of Familial Congenital Atrichia Curēus · 2023
    25. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    26. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    27. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    28. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    29. Congenital triangular alopecia: A close mimicker of alopecia areata International Journal of Trichology · 2011 · 13 citations
    30. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations