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    1. Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing Seminars in Cutaneous Medicine and Surgery · 2012 · 11 citations
    2. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    3. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    4. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations
    5. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    6. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024
    7. Human Hair as a Testing Substrate in the Era of Precision Medicine: Potential Role of ‘Omics-Based Approaches IntechOpen eBooks · 2018 · 1 citations
    8. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    9. Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India Anatomy Physiology & Biochemistry International Journal · 2023
    10. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    11. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    12. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia Expert opinion on orphan drugs · 2017 · 1 citations
    13. Translational perspectives in HTRA1-associated disorders: biomarkers, gene therapy, and future directions International Journal of Pharmaceutical and Clinical Research · 2026
    14. Chrousos syndrome: from molecular pathogenesis to therapeutic management European Journal of Clinical Investigation · 2015 · 47 citations
    15. Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene Journal of dermatology · 2015 · 10 citations
    16. Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth Pediatrics in Review · 2024
    17. New Frontiers of Non‐Invasive Detection in Scalp and Hair Diseases: A Review of the Application of Novel Detection Techniques Skin Research and Technology · 2025
    18. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    19. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 2021 · 3 citations
    20. Non-invasive Approaches for the Diagnosis of Autoimmune/Autoinflammatory Skin Diseases—A Focus on Psoriasis and Lupus erythematosus Frontiers in Immunology · 2019 · 17 citations
    21. Intérêt des cheveux dans le diagnostic, la prise en charge et le suivi des sujets dépendants Annales de Toxicologie Analytique · 2017
    22. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    23. Tata Laksana Onikomikosis Candida Cermin Dunia Kedokteran · 2025
    24. Clinical, pathological, and molecular features of classical and L-type atypical-BSE in goats PloS one · 2018 · 5 citations
    25. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    26. Non-nutritional rickets: Approach, precision medicine, and outcomes World Journal of Clinical Pediatrics · 2026
    27. Clinical Applications of Extracellular Vesicles: Promises and Pitfalls International Journal of Molecular Sciences · 2026
    28. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    29. Identification of Somatic <i>KRAS</i> Mutation in a Korean Baby with Nevus Sebaceus Syndrome Annals of Laboratory Medicine · 2014 · 3 citations
    30. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations