Purvi Majethia - Manipal Academy of Higher Education, Kasturba Medical College

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论文共 21 篇作者统计合作学者相似作者

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Report of a Novel Recurrent Homozygous Variant C.620a>t in Three Unrelated Families with Thiamine Metabolism Dysfunction Syndrome 5 and Review of Literature

Selinda Mascarenhas, Mayuri Yeole,Lakshmi Priya Rao,Michelle C. do Rosario,Purvi Majethia,Karthik Vijay Nair,Suvasini Sharma,Praveen Kumar Barala,Ratna Dua Puri,Swasti Pal,Shahyan Siddiqui,Anju Shukla

Clinical Dysmorphology (2024)

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Biallelic EPB41L3 Variants Underlie a Developmental Disorder with Seizures and Myelination Defects

Brain (2024)

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CHD8 Missense Variants Cause a Variable Neurodevelopmental Disorder with Incomplete Penetrance

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 721-721

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Bi-Allelic Splicing Variant, C.153-2A > C in TOMM7 is Associated with Leigh Syndrome

Mayuri Yeole,Purvi Majethia,Shahyan Siddiqui,Katta Mohan Girisha,Anju Shukla,Periyasamy Radhakrishnan,Vivekananda Bhat

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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Genetic and Phenotypic Landscape of Pediatric-Onset Epilepsy in 142 Indian Families: Counseling and Therapeutic Implications

Purvi Majethia,Namanpreet Kaur,Selinda Mascarenhas,Lakshmi Priya Rao,Shruti Pande,Dhanya Lakshmi Narayanan,Vivekananda Bhat,Shalini S. Nayak,Karthik Vijay Nair, Adarsh Pooradan Prasannakumar,Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat,Shrikiran Aroor,Leslie Lewis,Jayashree Purkayastha,Y. Ramesh Bhat,B. K. Praveen,B. L. Yatheesha,Siddaramappa J. Patil,Sheela Nampoothiri,Nutan Kamath,Shahyan Siddiqui,Stephanie Bielas,Katta Mohan Girisha,Suvasini Sharma,Anju Shukla

CLINICAL GENETICSno. 6 (2024): 639-654

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De Novo Variants Underlying Monogenic Syndromes with Intellectual Disability in a Neurodevelopmental Cohort from India

European journal of human genetics EJHGno. 10 (2023): 1291-1298

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Exome sequencing detects two novel variants in SNRPN in two patients with Prader-Willi/ Prader-Willi-like syndrome

Arrate Pereda,Purvi Majethia,Guiomar Perez de Nanclares,Anju Shukla

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 448-448

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Further Evidence of Biallelic Variants in KCNK18 As a Cause of Intellectual Disability and Epilepsy with Febrile Seizure Plus

Purvi Majethia,Rhea Harish,Dhanya Lakshmi Narayanan,B. L. Yatheesha,Suvasini Sharma,Anju Shukla

CLINICAL DYSMORPHOLOGY（2023）

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Neurodegeneration with Brain Iron Accumulation: a Case Series Highlighting Phenotypic and Genotypic Diversity in 20 Indian Families

Haseena Sait,Somya Srivastava,Manmohan Pandey,Deepak Ravichandran,Anju Shukla,Kausik Mandal,Deepti Saxena,Arya Shambhavi,Purvi Majethia,Lakshmi Priya Rao,Suvasini Sharma,Shubha R. Phadke,Amita Moirangthem

Neurogenetics（2023）

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Genotypic spectrum and its clinical implication in disorders with epilepsy in Indian population: A preliminary experience

Purvi Majethia,Vivekananda Bhat,Karthik Nair,Dhanya Lakshmi Narayanan,Shrikiran Aroor,Ramesh Bhat,Suvasini Sharma,B. K. Praveen,B. L. Yatheesha,Siddaramappa J. Patil,Nutan Kamath,Shahyan Siddiqui,Rajagopal Kadavigere,Stephanie Bielas,Katta Girisha,Anju Shukla

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 473-473

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