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    Research 541–570 of 1000+

    1. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    2. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    3. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    4. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Journal of endocrinological investigation · 2021 · 31 citations
    5. Monilethrix: A rare hereditary condition Indian Journal of Dermatology · 2013 · 12 citations
    6. Severe metabolic disorders coexisting with Werner syndrome: a case report Endocrine journal · 2020 · 6 citations
    7. Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency Molecular Genetics & Genomic Medicine · 2024 · 2 citations
    8. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    9. Muir-torre syndrome in two families in Leicestershire, United Kingdom Journal of the American Academy of Dermatology · 2005
    10. Female Androgenetic (?) Alopecia Hair transplant forum international · 2015
    11. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    12. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    13. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    14. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    15. Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock BMC Pediatrics · 2025
    16. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    17. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    18. Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D Molecular Endocrinology · 2002 · 277 citations
    19. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    20. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    21. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    22. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    23. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    24. Discreet monilethrix: De novo mutation on the example of polish families International Journal of Trichology · 2017 · 1 citations
    25. Effect of Oral Minoxidil on Monilethrix International Journal of Trichology · 2025
    26. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    27. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice Biochemical and Biophysical Research Communications · 2024
    28. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024
    29. A retrospective study on the characteristics of androgenetic alopecia among Asian races in the National Skin Centre, a tertiary dermatological referral centre in Singapore. PubMed · 2002 · 2 citations
    30. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations