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Research 10 of 841

1. PLCD1 and Pilar Cysts 2019 · 5 citations
2. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations
3. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
4. Skin Cyst: A Pathological Dead-End With a New Twist of Morphogenetic Potentials in Organoid Cultures Frontiers in cell and developmental biology · 2021 · 5 citations
5. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
6. Quisto matrical. Diagnósticos diferenciais. Repositório Científico do Instituto Politécnico de Viseu (Instituto Politécnico de Viseu) · 2009
7. Epidermal–dermal coupled spheroids are important for tissue pattern regeneration in reconstituted skin explant cultures npj regenerative medicine · 2023
8. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
9. Disruption of tubular Flcn expression as a mouse model for renal tumor induction Kidney International · 2015 · 29 citations
10. A Solitary Firm Nodule Over Cheek Indian Dermatology Online Journal · 2024

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