A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype von Jairaman, Amit, Badiger, Vaishnavi Ashok, Raj, Spoorthy, Nair, Karthik Vijay, Balan, Suma, Narayanan, Dhanya Lakshmi

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Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abn... von Kakar, Naseebullah, Mascarenhas, Selinda, Ali, Asmat, Azmatullah, Ijlal Haider, Syed M, Badiger, Vaishnavi Ashok, Ghofrani, Mobina Shadman, Kruse, Nathalie, Hashmi, Sohana Nadeem, Pozojevic, Jelena, Balachandran, Saranya, Toft, Mathias, Malik, Sajid, Händler, Kristian, Fatima, Ambrin, Iqbal, Zafar, Shukla, Anju, Spielmann, Malte, Radhakrishnan, Periyasamy

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Cleavage Resistant RIP Kinase1 Induced Autoinflammatory Syndrome (CRIA) - A Novel Autoinflammatory Syndrome von Gangadharan, Harikrishnan, Balan, Suma, Narayanan, Dhanya Lakshmi, Badiger, Vaishnavi Ashok, Sreelatha, P. R., Jayaprakash, K. P.

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