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

Prenatal diagnosis of Tay-Sachs disease: our institutional experience

por Sheth, Jayesh, Mistri, Mehul, Sheth, Frenny, Gupta, Sarita
Publicado 2014

Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases

por Mistri, Mehul, Oza, Nrupesh, Sheth, Frenny, Sheth, Jayesh
Publicado 2014

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

por Sheth, Frenny, Liehr, Thomas, Shah, Krati, Sheth, Jayesh
Publicado 2015

What drives slow wave activity during early non-REM sleep: Learning during prior wake or effort?

por Li, Ziyang, Sheth, Aarohi B., Sheth, Bhavin R.
Publicado 2017

Transcatheter treatment of an unusual coronary arteriovenous malformation with a fistulous sac in the interventricular septum

por Nair, Anupama, Sheth, Kshitij, Sheth, Rahul, Dalvi, Bharat
Publicado 2021

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

The Halo Grail: Clusters and clustering in cosmology

por Sheth, Ravi
Publicado 2011

Breakout Strategies for Emerging Markets: Business and Marketing Tactics for Achieving Growth

por Sheth, Jagdish
Publicado 2016

Business Law

por Sheth, Tejpal
Publicado 2017

Business Law

por Sheth, Tejpal
Publicado 2011

Management, Ethics and Communication for CS Foundation

por Sheth, Tejpal
Publicado 2013

Multimedia data management: using metadata to integrate and apply digital media

por Sheth, Amit
Publicado 1998

Evaluating the Safety of Intranasal Steroids in the Treatment of Allergic Rhinitis

por Sheth, Ketan
Publicado 2008