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    Research 121–150 of 1000+

    1. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    2. Congenital atrichia with papular lesions Dermatology Online Journal · 2020 · 4 citations
    3. Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene Frontiers in endocrinology · 2021 · 3 citations
    4. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    5. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    6. A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions IP Indian journal of clinical and experimental dermatology · 2022
    7. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    8. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    9. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    10. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    11. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    12. A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions Experimental Dermatology · 2000 · 47 citations
    13. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    14. Colourless side of the <i>nude</i> mutation: Foxn1 and hair pigmentation Pigment Cell & Melanoma Research · 2008 · 1 citations
    15. Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings International journal of contemporary pediatrics · 2020
    16. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021
    17. Defective control of growth rate and cell diameter in tip-growing root hairs of the<i>rhd4</i>mutant of<i>Arabidopsis thaliana</i> Canadian Journal of Botany · 1999 · 26 citations
    18. Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse Molecular genetics and genomics · 2004 · 12 citations
    19. 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing Journal of Investigative Dermatology · 2024
    20. Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus 1997 · 38 citations
    21. First symposium on natural gene therapy of the skin Experimental dermatology · 2012 · 9 citations
    22. Alopecia totalis in an infant Cosmoderma · 2023
    23. S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis The American Journal of Gastroenterology · 2020
    24. Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague Proceedings of The Japanese Society of Animal Models for Human Diseases · 2002
    25. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    26. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    27. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    28. 4 Vitamin D resistance Baillière's clinical endocrinology and metabolism · 1994 · 13 citations
    29. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    30. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations