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    Research 331–360 of 1000+

    1. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    2. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    3. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    4. Successful induction of oral tolerance in Netherton syndrome Allergologia et immunopathologia · 2011 · 11 citations
    5. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    6. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    7. Hereditary vitamin D rickets: a case series in a family 2014 · 6 citations
    8. Werner′s syndrome Indian Journal of Dermatology Venereology and Leprology · 2012 · 5 citations
    9. Monilethrix, a rare inherited hair shaft disorder in siblings Indian dermatology online journal · 2014 · 4 citations
    10. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    11. Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene Frontiers in endocrinology · 2021 · 3 citations
    12. Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China Journal of the American Academy of Dermatology · 2013 · 3 citations
    13. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene Indian Journal of Dermatology Venereology and Leprology · 2023 · 2 citations
    14. 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa Journal of Investigative Dermatology · 2017 · 2 citations
    15. A 40-Year-Old Woman With Facial Papules and Flank Pain Archives of Pathology & Laboratory Medicine · 2006 · 2 citations
    16. ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India Indian dermatology online journal · 2018 · 1 citations
    17. Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II Journal of Nepal Paediatric Society · 2016 · 1 citations
    18. Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings International Journal of Dermatology · 2025
    19. Androgenic alopecia and differential diagnoses of alopecia University of Zadar Institutional Repository · 2023
    20. Clinical cases of Darier-White follicular dyskeratosis Medičnì perspektivi · 2022
    21. Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness 2021
    22. Hair: more than just an appendage International journal of research in dermatology · 2021
    23. Loose anagen syndrome in one identical twin girl. PubMed · 2021
    24. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    25. Loose Anagen Syndrome 2019
    26. Congenital and Hereditary Skin Diseases 2018
    27. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    28. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    29. Hair Anomalies in a 6-Year-Old Girl Case reports in clinical medicine · 2016
    30. Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels Memorial University Research Repository (Memorial University) · 2016