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Burden of Rare Genetic Disorders in India: Twenty-Two Years’ Experience of a Tertiary Centre
Jayesh Sheth,Aadhira Nair,Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi,Ashish Bavdekar,Sheela Nampoothiri,Chaitanya Datar, Ajit Gandhi,Mamta Muranjan,Anupriya Kaur, Manisha Desai,Mehul Mistri, Chitra Patel,Premal Naik,Maulin Shah,Koumudi Godbole,Seema Kapoor,Neerja Gupta,Sunita Bijarnia-Mahay, Sandeep Kadam,Dhaval Solanki, Soham Desai, Anand Iyer,Ketan Patel,Harsh Patel,Raju C. Shah, Shalmi Mehta, Ruchi Shah,Riddhi Bhavsar,Jhanvi Shah, Mili Pandya, Bhagyadhan Patel,Sudhir Shah,Heli Shah,Shalin Shah,Shruti Bajaj,Siddharth Shah, Nilam Thaker,Umesh Kalane,Mahesh Kamate, Vykunta Raju KN,Naresh Tayade, Sujatha Jagadeesan,Deepika Jain,Mitesh Chandarana, Jitendra Singh,Sanjiv Mehta,Beena Suresh,Harsh Sheth
Orphanet Journal of Rare Diseasesno. 1 (2024)
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Novel Mutation As a Cause of Anterior Segment Dysgenesis Leading to Blindness in Progeny: the Genetics Decoded
Kumari Pritti,Vineet Mishra, Somesh Aggarwal,Mehul Mistri,Manisha Chhetry
˜The œEgyptian Journal of Medical Human Genetics /˜The œEgyptian Journal of Medical Human Geneticsno. 1 (2024)
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Novel KIF5C Gene Mutation Leading to Frontal Pachygyria: A Rare Case Report and a Review of the Literature
Udhaya Kotechaa,Mehul Mistri,Parth Shah,Nidhi Shah, Vivek Jain, Manisha Goyal
Journal of Pediatric Neurosciencesno. 4 (2023): 330-334
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Exome Sequencing in 403 Indian Children with Neurodevelopmental Disorders: Diagnostic Yield, Utility and Challenges in a Resource-Limited Setting
Pranav Chand Rayabarapu, Wankhede Vinit, Varsha Vaidya, Anand Subramaniam Iyer, Madhavi Shelke, Shagun Aggarwal, Suvarna Magar, Sumita Danda, Amita Moirangthem, Shubha R. Phadke, Manisha Goyal,Prajnya Ranganath,Mehul Mistri,Parth Shah,Nidhi Shah, Udhaya Kotecha
SSRN Electronic Journal (2022)
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作者统计

#Papers: 42

#Citation: 314

H-Index: 10

G-Index: 16

Sociability: 5

Diversity: 0

Activity: 0

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