🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

I’m excited to share my first Gemma Carvill, PhD preprint! In this manuscript we show that missense variants in #KCNH5 cause neurodevelopmental phenotypes including #epilepsy and highlight an emerging genotype-phenotype correlation. Let me walk you through the details! 1/11

Opportunity to work on Pediatric neurodevelopmental disorders Directorate of Research, MAHE, Manipal Manipal Academy of Higher Education Medical Genetics Manipal

Proud of the work presented by the doctoral students at the #ESHG2022, Vienna, Austria. Great meeting, Congratulations Purvi Majethia Prince Jacob for the developing country awards. Congratulations Shruti_Pande for the good work Manipal Academy of Higher Education Directorate of Research, MAHE, Manipal Medical Genetics Manipal

dlvr.it/SWVSnz Excited to share the unusual new hypomyelinating disorder with extreme delay in myelination and also favourable outcome in a subset of individuals. Thanks to Dr Quasar Padiath and all collaborators Directorate of Research, MAHE, Manipal Manipal Academy of Higher Education KMC Manipal

Model systems used for studying rare disorders help us in discovering new disease-gene associations, resolving VUSs, understanding pathomechanisms and devising therapies. Here is a step in this direction KMC Manipal Manipal Academy of Higher Education Directorate of Research, MAHE, Manipal Medical Genetics Manipal

A moment of pride and excitement for the department as we inaugurated the new facility, a big thank you to everyone who facilitated this Manipal Academy of Higher Education KMC Manipal Medical Genetics Manipal Directorate of Research, MAHE, Manipal

Feels great to keep on coming back to this interesting meeting irrespective of the long travel #ESHG2023. Presenting the burden of de novo variants in ID Shruti_Pande Purvi Majethia DBT/WT India Alliance KMC Manipal Manipal Academy of Higher Education Medical Genetics Manipal

further evidence of KCNK18 as a #autosomal ressive dsease-causing gene resulting #intellectual disability and epilepsy with febrile seizure plus in an Indian patient journals.lww.com/clindysmorphol…

Past and present scholars of Medical Genetics Manipal attending and presenting #ASHG2023, proud of the team and their work Purvi Majethia @thrumybluwindow Prince Jacob Parneet Kaur, PhD KMC Manipal Manipal Academy of Higher Education

The stage is all set! We are looking forward to exciting science and enriching interactions over the next few days #MGU7 #RareDisease Medical Genetics Manipal Manipal Academy of Higher Education