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    Research 661–690 of 1000+

    1. KRT16 wt Allele Definitions · 2020
    2. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    3. Adrenal causes of endocrine hypertension in childhood or adolescence Journal of Endocrinological Investigation · 2025
    4. Disorders linked to insufficient androgen action in male children 2001
    5. Impaired Notch‐MKP‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology Experimental dermatology · 2013 · 112 citations
    6. Symptomatic zinc deficiency in a full-term breast-fed infant Dermatology Online Journal · 2010 · 20 citations
    7. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations Clinical and experimental dermatology · 2013 · 11 citations
    8. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    9. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    10. Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse The Journal of Physiology · 2024 · 7 citations
    11. The fundamentals of WNT10A Differentiation · 2025 · 6 citations
    12. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    13. Congenital atrichia with papular lesions Dermatology Online Journal · 2020 · 4 citations
    14. Formation of the cornified envelope Experimental dermatology · 2005 · 3 citations
    15. Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels Pediatria i Medycyna Rodzinna · 2025 · 1 citations
    16. Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype Curēus · 2023 · 1 citations
    17. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    18. P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma JCEM case reports · 2024
    19. Clinical case of alopecia totalis in pediatric practice Sučasna pedìatrìâ. Ukraïna · 2023
    20. Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity Pediatrics in review · 2021
    21. Fertility and Sterility Vol 101 No 4, April 2014 Fertility and Sterility · 2014
    22. Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance Pediatric Rheumatology · 2008
    23. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
    24. Epidermolysis bullosa in calves in the United Kingdom Bristol Research (University of Bristol) · 2007
    25. From signal to form: aspects of the cytoskeleton-plasma membrane—cell wall continuuum in root hair tips Journal of Experimental Botany · 1997 · 109 citations
    26. Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique HAL (Le Centre pour la Communication Scientifique Directe) · 2025
    27. Woodhouse-Sakati syndrome (WSS) Saudi medical journal · 2021 · 5 citations
    28. Bachmann–Bupp syndrome and treatment 2023
    29. Dermatopathia pigmentosa reticularis: A rare case with adermatoglyphia Our Dermatology Online · 2025
    30. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025