Clinical and Health Economic Evaluation of a Novel Device for Fecal Management in Bedridden Patients

por Sheth, Harsh, Rao, Shilpa, Karthik, V
Publicado 2023

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

por Bajaj, Shruti, Nabi, Fazal, Shah, Jhanvi, Sheth, Harsh
Publicado 2021

Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016

por Sheth, Harsh, McNally, Daniel, Santibanez-Koref, Mauro, Burn, John
Publicado 2019

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

por Sheth, Harsh, Shah, Jhanvi, Nair, Aadhira, Naik, Premal, Sheth, Jayesh
Publicado 2021

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

por Shah, Jhanvi, Patel, Harsh, Jain, Deepika, Sheth, Frenny, Sheth, Harsh
Publicado 2021

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

por Bajaj, Shruti, Satoskar, Purnima, Nair, Aadhira, Sheth, Frenny, Sheth, Jayesh, Sheth, Harsh
Publicado 2022

Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

por Sheth, Harsh, Trivedi, Sunil, Liehr, Thomas, Patel, Ketan, Jain, Deepika, Sheth, Jayesh, Sheth, Frenny
Publicado 2020

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

por Sheth, Harsh, Naik, Premal, Shah, Maulin, Bhavsar, Riddhi, Nair, Aadhira, Sheth, Frenny, Sheth, Jayesh
Publicado 2022

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

por Sheth, Frenny, Shah, Jhanvi, Patel, Ketan, Patel, Darshan, Jain, Deepika, Sheth, Jayesh, Sheth, Harsh
Publicado 2023

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

por Sheth, Frenny J, Liehr, Thomas, Kumari, Pritti, Akinde, Ralph, Sheth, Harsh J, Sheth, Jayesh J
Publicado 2013

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

por Sheth, Frenny, Andrieux, Joris, Tewari, Stuti, Sheth, Harsh, Desai, Manisha, Kumari, Pritti, Nanavaty, Nidhish, Sheth, Jayesh
Publicado 2013

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

por Sheth, Jayesh, Nair, Aadhira, Bhavsar, Riddhi, Shah, Heli, Tayade, Naresh, Prabha, C. Ratna, Sheth, Frenny, Sheth, Harsh
Publicado 2023

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

por Sheth, Jayesh, Shah, Siddharth, Datar, Chaitanya, Bhatt, Kaveri, Raval, Pooja, Nair, Aadhira, Jain, Deepika, Shah, Jhanvi, Sheth, Frenny, Sheth, Harsh
Publicado 2023

Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

por Patel, Komal M., Bhatt, Arpan D., Shah, Krati, Waghela, Bhargav N., Pandit, Ramesh J., Sheth, Harsh, Joshi, Chaitanya G., Joshi, Madhvi N.
Publicado 2021

Screening by single-molecule Molecular Inversion Probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males

por Batiha, Osamah, Burghel, George J, Alkofahi, Ayesha, Alsharu, Emad, Smith, Hannah, Alobaidi, Bilal, Al-Smadi, Mohammad, Awamlah, Nour, Hussein, Lama, Abdelnour, Amid, Sheth, Harsh, Veltman, Joris A
Publicado 2022

Point of care testing for improving risk- benefit ratio of aspirin and warfarin

por Sheth, Harsh, Northwood, Emma, Elliott, Faye, Jackson, Michael, Koref, Mauro Santibanez, Tyson, John, Daly, Ann, O’Halloran, Jonathan, Sheth, Jayesh, Sheth, Frenny, Parikh, Keyur, Bishop, D Timothy, Burn, John
Publicado 2014

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

por Sheth, Frenny, Shah, Jhanvi, Jain, Deepika, Shah, Siddharth, Patel, Harshkumar, Patel, Ketan, Solanki, Dhaval I, Iyer, Anand S, Menghani, Bhargavi, Mhatre, Priti, Mehta, Sanjiv, Bajaj, Shruti, Patel, Vishal, Pandya, Manoj, Dhami, Deepak, Patel, Darshan, Sheth, Jayesh, Sheth, Harsh
Publicado 2023

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and profi...

por Redford, Lisa, Alhilal, Ghanim, Needham, Stephanie, O’Brien, Ottie, Coaker, Julie, Tyson, John, Amorim, Leonardo Maldaner, Middleton, Iona, Izuogu, Osagi, Arends, Mark, Oniscu, Anca, Alonso, Ángel Miguel, Laguna, Sira Moreno, Gallon, Richard, Sheth, Harsh, Santibanez-Koref, Mauro, Jackson, Michael S., Burn, John
Publicado 2018

Identification of a neuronal transcription factor network involved in medulloblastoma development

por Łastowska, Maria, Al-Afghani, Hani, Al-Balool, Haya H, Sheth, Harsh, Mercer, Emma, Coxhead, Jonathan M, Redfern, Chris PF, Peters, Heiko, Burt, Alastair D, Santibanez-Koref, Mauro, Bacon, Chris M, Chesler, Louis, Rust, Alistair G, Adams, David J, Williamson, Daniel, Clifford, Steven C, Jackson, Michael S
Publicado 2013

Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics

por Gallon, Richard, Sheth, Harsh, Hayes, Christine, Redford, Lisa, Alhilal, Ghanim, O'Brien, Ottilia, Spiewak, Helena, Waltham, Amanda, McAnulty, Ciaron, Izuogu, Osagie G., Arends, Mark J., Oniscu, Anca, Alonso, Angel M., Laguna, Sira M., Borthwick, Gillian M., Santibanez‐Koref, Mauro, Jackson, Michael S., Burn, John
Publicado 2019