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    Research 451–480 of 1000+

    1. 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
    2. Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia Journal of dermatology · 2011
    3. AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS Pediatric Research · 1977
    4. 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
    5. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    6. 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
    7. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS Kırıkkale Üniversitesi Tıp Fakültesi Dergisi · 2024
    8. Hereditary, Congenital, and Acquired Alopecias Elsevier eBooks · 2011
    9. Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia Pediatric Research · 1981
    10. Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita Journal of Investigative Dermatology · 2007 · 46 citations
    11. A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb British Journal of Dermatology · 2008 · 5 citations
    12. BENEFÍCIOS DO USO DA TOMOGRAFIA COMPUTADORIZADA NO DIAGNÓSTICO DE POSSÍVEL MICROCEFALIA DEVIDO À INFECÇÃO CONGÊNITA PELO ZIKA VÍRUS Amplla Editora eBooks · 2022
    13. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    14. Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia 2022 · 1 citations
    15. 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia 2021 · 1 citations
    16. Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in <i>FoxD1</i>-lineage mesenchymal cells leads to congenital truncal alopecia bioRxiv (Cold Spring Harbor Laboratory) · 2021
    17. [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme]. PubMed · 1962
    18. Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ<sup>5</sup>-Δ<sup>4</sup>-lsomerase in Human Adrenals and Gonads Molecular Endocrinology · 1991 · 354 citations
    19. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    20. Structural abnormalities of the hair shaft Journal of The American Academy of Dermatology · 1987 · 126 citations
    21. Hypertrichosis Journal of the American Academy of Dermatology · 2003 · 125 citations
    22. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    23. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    24. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    25. Critical Developmental Periods for Effects on Male Rat Genitalia Induced by Finasteride, a 5α-Reductase Inhibitor Toxicology and Applied Pharmacology · 1993 · 86 citations
    26. Acne as a chronic systemic disease Clinics in Dermatology · 2013 · 71 citations
    27. FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program Frontiers in Immunology · 2013 · 69 citations
    28. The clinical evaluation of hirsutism Dermatologic therapy · 2008 · 67 citations
    29. The Use of Micrografts and Minigrafts in the Aesthetic Reconstruction of the Face and Scalp Plastic and Reconstructive Surgery · 2003 · 67 citations
    30. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations