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Thrilled to share that our paper, "Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications," is now officially published in Clinical Genetics after four years of dedicated work! onlinelibrary.wiley.com/doi/full/10.11…

🎓 Manipal Academy of Higher Education (MAHE), an Institution of Eminence Deemed to be University, Manipal, welcomes applications from Foreign Nationals for Faculty positions across our vibrant campuses in Manipal, Mangalore, Bengaluru, and Jamshedpur! 📝 To apply

Are you participating at the annual #Racefor7 event? An awareness run about #rarediseases and to empower patients and their families with access to national and international resources, organised by ORDIndia 25 Feb '24 racefor7.com/about/ Rakesh K Mishra Prasanna Shirol

We are committed to the cause of families with rare genetic disorders Medical Genetics Manipal KMC Manipal VIVEKANANDA BHAT Dr Radhakrishnan Priyanka Upadhyai Shalini S. Nayak Manipal Academy of Higher Education

We celebrate contributions of women in biomedical research in India & are proud to support the brilliant minds as they shape the research landscape & pave the way for future generations of women. Here's to the women scientists we have the privilege of working with 👏 #IWD2024

News about the European Society of Human Genetics (ESHG) Dysmorphology workshops! A dedicated pre-submission portal and, the ‘Dian Donnai and Jill Clayton-Smith’ prize for the best case presentation! Case Submission Deadline: April 10, 2024. More info here 2024.eshg.org/programme-at-a…

🌟 Highlights "Cracking the genetic code of the human genome" 🧬 Interactive sessions on rare genetic disorders, DNA extraction, and chromosome studies 🎥 Mendel's life movie, quizzes, photo booth, & more! Explore the fascinating world of genetics and meet experts in the field!

"Thank you to everyone who joined us for an incredible #OpenDay2024 🧬 Your curiosity and enthusiasm made it a memorable event. Until next time! #Genetics #OpenDay Medical Genetics Manipal Manipal Academy of Higher Education KMC Manipal

We are delighted to announce the European Society of Human Genetics Syndromology and Dysmophology Course in Manchester - 22nd & 24th October. Interested? Check out our website: mrcc.org.uk/education-enga… Siddharth Banka Sofia Douzgou Houge European Society of Human Genetics (ESHG) ERN-ITHACA

Exciting opportunity to work with a enthusiastic team on rare diseases KMC Manipal Manipal Academy of Higher Education Medical Genetics Manipal. Request to spread the word, last date of application is July 31.

Research fellow position available to work on interesting aspects of rare genetic diseases Medical Genetics Manipal KMC Manipal Manipal Academy of Higher Education, please RT

WELCOME TO THE PINK CITY OF INDIA- PARTICIPATE IN THE ICBD2024 28-30 NOVEMBER 2024!

Our new study identifies biallelic EPB41L3 variants linked to a regressive neurodevelopmental disorder characterized by early-onset seizures, hypotonia, & myelination delays. These findings emphasize EPB41L3’s critical role in brain development & oligodendrocyte function. UCL Queen Square Institute of Neurology

A warm welcome from the new president of the #societyforhumangenetics Bill Newman! As the website is already live, check out the first information about #eshg2025 such as preliminary programme, confirmed speakers and plan your visit to Milan already now: 2025.eshg.org

Looking for enthusiastic young project manager, please see the advertisement below DBT/WT India Alliance Manipal Academy of Higher Education KMC Manipal

The Dept. of Medical Genetics, KMC Manipal organized a powerful street play yesterday to 📢 spread awareness about rare diseases! Congratulations to the entire team Medical Genetics Manipal for their efforts in educating the community! Anju #RareDiseaseDay #KMC_Manipal #MAHE

In support of #RareDiseaseDay2025, we’re highlighting our researchers working to improve rare diseases diagnosis, treatment, and care in India: (1/6)

First organised by Prof. Dian Donnai in 1984, the MDC is now a leading biennial international event for experts in 🧬 #Dysmorphology #CongenitalMalformations #NeurodevelopmentalDisorders #GenomicMedicine #RareConditions Looking forward to welcoming friends from around the 🌍

Excited to share our latest collaborative paper with Anju, Akhilesh Pandey Lab, Aarti Sevilimedu. Thank you ICMR, Manipal School of Life Sciences, Manipal Academy of Higher Education for support.Further delineation of defects in MRPS2 causing human OXPHOS deficiency.. rdcu.be/enrra