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    Research 181–210 of 1000+

    1. Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome 2022 · 3 citations
    2. Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin JCRPE · 2020 · 2 citations
    3. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    4. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    5. Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA eLife · 2019 · 49 citations
    6. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    7. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    8. Fertility evaluation of infertile women: a committee opinion Fertility and Sterility · 2021 · 45 citations
    9. Genome-Wide Association Study of Fiber Diameter in Alpacas Animals · 2023 · 1 citations
    10. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    11. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    12. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    13. Nutritional roles of selenium in cellular and mouse aging University Libraries (University of Maryland) · 2013
    14. Molecular basis of androgen insensitivity Molecular and Cellular Endocrinology · 2001 · 309 citations
    15. Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression Journal of Investigative Dermatology · 2005 · 37 citations
    16. Toxicity assessment of the green Dunaliella salina microalgae Toxicology Reports · 2019 · 20 citations
    17. Telomere Dynamics and Telomerase in the Biology of Hair Follicles and their Stem Cells as a Model for Aging Research Journal of Investigative Dermatology · 2021 · 12 citations
    18. Congenital atrichia associated with situs inversus and mesocardia International journal of trichology · 2012 · 5 citations
    19. Dyslipidaemia in women with polycystic ovary syndrome referred to a teaching hospital in Cape Town, South Africa Journal of Neuroendocrinology · 2024 · 3 citations
    20. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    21. This Month in the Journal The American Journal of Human Genetics · 2005
    22. The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of <i>HOXC10</i> G3 Genes Genomes Genetics · 2021 · 29 citations
    23. Impaired wound healing in transgenic mice overexpressing the activin antagonist follistatin in the epidermis EMBO journal · 2001 · 163 citations
    24. Recurrent implantation failure: A comprehensive summary from etiology to treatment Frontiers in Endocrinology · 2023 · 128 citations
    25. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    26. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    27. Isochromosome Mosaic Turner Syndrome: A Case Report Journal of the ASEAN Federation of Endocrine Societies · 2019 · 3 citations
    28. Induction of the hair growth phase in postnatal mice by localized transient expression of Sonic hedgehog Journal of Clinical Investigation · 1999 · 231 citations
    29. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding Journal of Clinical Investigation · 2023 · 4 citations
    30. Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism AACE clinical case reports · 2021