Search
for

    Sort by

    Research 61–90 of 1000+

    1. Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats International journal of toxicology · 2002 · 4 citations
    2. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    3. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    4. Adrenal causes of endocrine hypertension in childhood or adolescence Journal of Endocrinological Investigation · 2025
    5. Hair Loss in Children Elsevier eBooks · 2018
    6. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    7. Modelling androgen synthesis and action during human sexual differentiation ePrints Soton (University of Southampton) · 2010
    8. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    9. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    10. The Use of Human Dermal Papillae Conditioned Medium (HDPCM) on Aplasia Cutis Congenita in Lower Extremity due to Intrauterine Varicella Infection KnE life sciences · 2019 · 1 citations
    11. Platelet-rich Plasma Injection and Lipofilling-assisted Hair Transplantation on Residual Scalp Alopecia Post Aplasia Cutis Congenita Verticis (ACCV) International Journal of Trichology · 2025
    12. Trichoscopy of aplasia cutis congenita of the scalp in skin of color Journal of Cosmetic Dermatology · 2023
    13. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
    14. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    15. Síndrome postfinasterida y disfunción eréctil. Caso clínico y revisión de la literatura Revista Chilena de Urología · 2023
    16. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    17. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    18. A case of congenital pili multigemini Pediatric Dermatology · 2024 · 1 citations
    19. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    20. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    21. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    22. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) Clinical Genetics · 1998 · 28 citations
    23. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    24. Nevus psiloliparus: Newly described histopathological features from transverse sections Journal of Cutaneous Pathology · 2020 · 6 citations
    25. Voice changes in reproductive disorders, thyroid disorders and diabetes: a review Endocrine connections · 2022
    26. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    27. Puberty induction with recombinant gonadotropin: What impact on future fertility? Annales d Endocrinologie · 2022 · 2 citations
    28. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    29. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    30. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations