Hasil Pencarian - Harsh Sheth

Perbaiki Hasil
  1. 1
    Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report

    Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report oleh Shruti Bajaj, Fazal Nabi, Jhanvi Shah, Harsh Sheth

    Diterbitkan 2021-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016.

    Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016. oleh Harsh Sheth, Daniel McNally, Mauro Santibanez-Koref, John Burn

    Diterbitkan 2019-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases

    Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases oleh Harsh Sheth, Jhanvi Shah, Aadhira Nair, Premal Naik, Jayesh Sheth

    Diterbitkan 2021-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

    A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome oleh Jhanvi Shah, Harsh Patel, Deepika Jain, Frenny Sheth, Harsh Sheth

    Diterbitkan 2021-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Narrative review on genetic counseling for hereditary cancers: General considerations

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

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report

    An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report oleh Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth

    Diterbitkan 2022-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Authors' reply to Gupta et al., and Shah et al.

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

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

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

    Diterbitkan 2022-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

    Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report oleh Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth

    Diterbitkan 2020-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

    A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report oleh Frenny Sheth, Jhanvi Shah, Ketan Patel, Darshan Patel, Deepika Jain, Jayesh Sheth, Harsh Sheth

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community

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

    Diterbitkan 2024-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

    Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India oleh Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth

    Diterbitkan 2023-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

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

    Diterbitkan 2023-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

    Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing oleh Komal M. Patel, Arpan D. Bhatt, Krati Shah, Bhargav N. Waghela, Ramesh J. Pandit, Harsh Sheth, Chaitanya G. Joshi, Madhvi N. Joshi

    Diterbitkan 2021-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

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

    Diterbitkan 2024-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

    Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test oleh 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

    Diterbitkan 2023-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.

    A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and profi... oleh Lisa Redford, Ghanim Alhilal, Stephanie Needham, Ottie O'Brien, Julie Coaker, John Tyson, Leonardo Maldaner Amorim, Iona Middleton, Osagi Izuogu, Mark Arends, Anca Oniscu, Ángel Miguel Alonso, Sira Moreno Laguna, Richard Gallon, Harsh Sheth, Mauro Santibanez-Koref, Michael S Jackson, John Burn

    Diterbitkan 2018-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations.

    Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations. oleh Harsh Sheth, Emma Northwood, Cornelia M Ulrich, Dominique Scherer, Faye Elliott, Jennifer H Barrett, David Forman, C Roland Wolf, Gillian Smith, Michael S Jackson, Mauro Santibanez-Koref, Robert Haile, Graham Casey, Mark Jenkins, Aung Ko Win, John L Hopper, Loic Le Marchand, Noralane M Lindor, Stephen N Thibodeau, John D Potter, John Burn, D Timothy Bishop

    Diterbitkan 2018-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

    Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in In... oleh 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

    Diterbitkan 2024-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre

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

    Diterbitkan 2024-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: