Resultados de procura - Harsh Sheth

Narrative review on genetic counseling for hereditary cancers: General considerations por Ehsan Ulhaq, Febin Huda, C Suhail, Harsh Sheth, R I Anu

Ligazón do recurso

Authors' reply to Gupta et al., and Shah et al. por Ehsan Ulhaq, P P Febin Huda, C Suhail, Harsh Sheth, R I Anu

Ligazón do recurso

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome por Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth

Ligazón do recurso

48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community por Jayesh Sheth, Harsh Sheth, Frenny Sheth, Bittianda Kuttapa Thelma, Madhvi Joshi, Inderjeet Kaur, Chaitanya Joshi

Ligazón do recurso

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review por Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth

Ligazón do recurso

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature por Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth

Ligazón do recurso

Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India por Jhanvi Shah, Debasrija Mondal, Deepika Jain, Priti Mhatre, Ketan Patel, Anand Iyer, Manoj Pandya, Bhargavi Menghani, Gayatri Dave, Jayesh Sheth, Frenny Sheth, Shweta Ramdas, Harsh Sheth

Ligazón do recurso

Uniform Reporting of Next Generation Sequencing: Indian Society of Medical and Pediatric Oncology por R. I. Anu, Amol Patel, Neha Pathak, Prashant Mehta, Anuradha Chougule, Harsh Sheth, Vidya Veldore, Moushumi Suryavanshi, Vineet Govinda Gupta, Umut Disel, Tilak T. V. S. V. G. K., Amit Dutt, Anguraj Sadanandam, Bhawna Sirohi, Padmaj Kulkarni

Ligazón do recurso

Localized Rectal Cancer: Indian Consensus and Guidelines por Viraj Lavingia, Shefali Sardana, Mansi Khanderia, Niharika Bisht, Amol Patel, Venkata Pradeep Babu Koyyala, Harsh Sheth, Anant Ramaswamy, Ashish Singh, Ashwin deSouza, Sneha Bothra Jain, Mukta Mahajan, Shruti Gohel, Aparna Parikh, Gina Brown, Bhawna Sirohi

Ligazón do recurso

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test por Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth

Ligazón do recurso

Prenatal diagnosis of rare genetic disorders: fourteen years’ experience of a tertiary genetic centre from India por Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, Chaitanya Datar, Archana Kher, Jigish Trivedi, Swati Thakkar, Ajit Gandhi, Meenakshi Soni, Mayank Chaudhary, Manish Banker, Anil Jalan, Mamta Muranjan, Sujal Munshi, Ami Munshi, Mili Pandya, Jhanvi Shah, Aadhira Nair, Riddhi Bhavsar, Frenny Sheth, Harsh Sheth

Ligazón do recurso

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine por Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Chaitanya Datar, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, C. Ratna Prabha, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia-Mahay, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Madhulika Kabra, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Frenny Sheth, Harsh Sheth

Ligazón do recurso

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in In... por Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth

Ligazón do recurso

Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre por 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

Ligazón do recurso