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    Research 31–60 of 1000+

    1. Pallister-Killian Syndrome NeoReviews · 2024
    2. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    3. NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association Lupus · 2012 · 10 citations
    4. Becker's Nevus Syndrome Journal of pediatric neurology · 2018 · 4 citations
    5. Eyelash Trichomegaly: Unusual Feature Associated with Systemic Lupus Erythematosus Patient Case reports in medicine · 2022
    6. Regulation of masculinization: androgen signalling for external genitalia development Nature Reviews Urology · 2018 · 45 citations
    7. Hair Manifestations of Systemic Disease Current Problems in Pediatric and Adolescent Health Care · 2012 · 10 citations
    8. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    9. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    10. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    11. The eyelash follicle features and anomalies: A review Journal of optometry · 2018 · 27 citations
    12. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    13. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    14. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    15. 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
    16. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    17. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    18. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    19. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    20. Congenital atrichia associated with nevus flammeus: A rare association Indian dermatology online journal · 2014 · 2 citations
    21. Congenital atrichia associated with situs inversus and mesocardia International journal of trichology · 2012 · 5 citations
    22. Adams–Oliver syndrome: new evidence in variable expressivity? International Journal of Dermatology · 2013
    23. ĮGIMTA NERANDĖJANTI SKALPO ALOPECIJA: KLINIKINIS ATVEJIS IR DIFERENCINĖ DIAGNOSTIKA Health Sciences · 2025
    24. Hair Anomalies in a 6-Year-Old Girl Case reports in clinical medicine · 2016
    25. Multiple congenital smooth muscle hamartoma: A case report Dermatologica Sinica · 2024
    26. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    27. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    28. 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
    29. FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches Journal of clinical immunology · 2017 · 33 citations
    30. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations