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    Research 631–660 of 798

    1. Abstracts Medizinische Genetik · 2019 · 2 citations
    2. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia. PubMed · 2025
    3. AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE Journal of the ASEAN Federation of Endocrine Societies · 2025
    4. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    5. Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings International journal of contemporary pediatrics · 2020
    6. Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease bioRxiv (Cold Spring Harbor Laboratory) · 2020
    7. Salt-losing tubulopathy and chronic dermatitis Kidney international · 2018
    8. Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks Zurich Open Repository and Archive (University of Zurich) · 2016
    9. Clinical Snippets Journal of Investigative Dermatology · 2003
    10. ダブルストロボレンジファインダの開発(特別講演)(画像センシングおよび一般) 映像情報メディア学会技術報告 · 2002
    11. BRCA2 in abscission Nature Cell Biology · 2012
    12. Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men 2012 · 78 citations
    13. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    14. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    15. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    16. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria PLOS Genetics · 2018 · 308 citations
    17. Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010 · 45 citations
    18. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    19. 5-Alpha reductase deficiency Current Opinion in Endocrinology, Diabetes and Obesity · 2014 · 38 citations
    20. Exogen hair characterization in human scalp Skin Research and Technology · 2007 · 35 citations
    21. Generation of Cashmere Goats Carrying an <i>EDAR</i> Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing International Journal of Biological Sciences · 2018 · 33 citations
    22. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    23. Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women Human Reproduction · 2006 · 25 citations
    24. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    25. Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases Journal of Cellular Biochemistry · 2019 · 16 citations
    26. Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs Animal Genetics · 2018 · 16 citations
    27. Analysis of genetic polymorphisms of steroid 5α-reductase type 1 and 2 genes in Korean men with androgenetic alopecia Journal of Dermatological Science · 2003 · 15 citations
    28. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    29. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    30. Dermatologic manifestations of endocrine disorders Current Opinion in Pediatrics · 2012 · 11 citations