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    Research 31–60 of 1000+

    1. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 2021 · 3 citations
    2. Clinical and genetic predictors of persistent chemotherapy-induced alopecia despite scalp cooling in breast cancer npj Breast Cancer · 2025
    3. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021
    4. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular genetics and metabolism · 2006 · 35 citations
    5. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011 · 26 citations
    6. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case Clinical Genetics · 2004 · 26 citations
    7. Late presentation of myotonic dystrophy Clinical and experimental dermatology · 1998 · 5 citations
    8. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    9. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    10. Pallister-Killian Syndrome NeoReviews · 2024
    11. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024
    12. [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II 2022
    13. Managing hair loss in midlife women Maturitas · 2012 · 17 citations
    14. 5α-Reductase Isoenzymes: From Neurosteroid Biosynthesis to Neuropsychiatric Outcomes NeuroSci · 2026
    15. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    16. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    17. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    18. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    19. Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images Clinical Case Reports · 2025
    20. Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report Journal of Clinical Case Studies · 2025
    21. Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures Italian Journal of Anatomy and Embryology · 2025
    22. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    23. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    24. SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS Journal of the Endocrine Society · 2020
    25. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women Human Reproduction Update · 2017 · 117 citations
    26. Familial patterns of alopecia areata: A systematic review and meta-analysis Journal of Autoimmunity · 2025 · 4 citations
    27. Adrenoleukodystrophy: A Rare Case Report Journal of Bangladesh College of Physicians and Surgeons · 1970 · 4 citations
    28. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    29. Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience Frontiers in Oncology · 2023 · 1 citations
    30. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations