franmartinezgr.bsky.social
Geneticist, PhD, ErCLG 🧬 https://www.linkedin.com/in/francisco-martinez-07484822
👤 Joined on 02 March 2025
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- 02 Mar 2025, 17:12
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Daily Novel Writing Festivals
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❤️ Beğendiği Gönderiler
🧬 #ESHG Syndromology & Dysmorphology Course 📅 14–16 October 2026 📍 Manchester, UK The curriculum will cover clinical approach, dysmorphology, genomics, mechanisms, treatments and the patient voice in genomic syndromology. 👉 Register now: www.mrcc.org.uk/events/manch... #Genetics #Dysmorphology
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🧬New from Pehlivan et al! 📄Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities
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Terrific to see this out! 10 years of variant interpretation courses delivered to >1000 participants 👏👏👏 And of course thoroughly evaluated 😁🇦🇺
Show PostAn impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟
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